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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BBS10 Gene

protein-coding   GIFtS: 51
GCID: GC12M076738

Bardet-Biedl syndrome 10

(Previous name: chromosome 12 open reading frame 58 )
(Previous symbol: C12orf58)
 Explore 10 diseases affiliated with
BBS10 via our new
 Human Malady Compendium 
Biological research products
for BBS10
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Bardet-Biedl Syndrome 101 2
C12orf581 2 3 5
FLJ235601 5
Chromosome 12 Open Reading Frame 581
Bardet-Biedl Syndrome 10 Protein2

External Ids:    HGNC: 262911   Entrez Gene: 797382   Ensembl: ENSG000001799417   OMIM: 6101485   UniProtKB: Q8TAM13   

Export aliases for BBS10 gene to outside databases

Previous GC identifers: GC12M075262 GC12M073790


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BBS10:
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive
disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental
retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes
exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function.
Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins
may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene
is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular
chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of
this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome
type 10. (provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1
Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT
complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles
to the cilia. Involved in adipogenic differentiation

Gene Wiki entry for BBS10


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BBS10 gene promoter:
         Nkx2-2   GCNF   Nkx2-5   AP-2gamma   C/EBPalpha   MEF-2A   POU2F1a   GCNF-1   aMEF-2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBBS10 promoter sequence
   Search SABiosciences Chromatin IP Primers for BBS10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS10


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q21.2   Ensembl cytogenetic band:  12q21.2   HGNC cytogenetic band: 12q21.2

BBS10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS10 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M076738:  view genomic region     (about GC identifiers)

Start:
76,738,254 bp from pter      End:
76,742,222 bp from pter
Size:
3,969 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1 (See protein sequence)
Recommended Name: Bardet-Biedl syndrome 10 protein  
Size: 723 amino acids; 80838 Da
Subunit: Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND
CCT8
Subcellular location: Cell projection, cilium. Note=Located within the basal body of the primary cilium of
differentiating preadipocytes
Miscellaneous: Adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat
accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis
participates to the pathogenesis of obesity in BBS
Sequence caution: Sequence=AAH13795.1; Type=Erroneous initiation; Sequence=BAB15695.1; Type=Erroneous initiation;
Secondary accessions: Q96CW2 Q9H5D2

Explore the universe of human proteins at neXtProt for BBS10: NX_Q8TAM1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TAM1

  • BBS10 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_078961.3  
    ENSEMBL proteins: 
     ENSP00000376946   ENSP00000447245  

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    Uscn Proteins for BBS10

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium IEA--


    BBS10 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BBS10 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002423 Cpn60/TCP-1

    Graphical View of Domain Structure for InterPro Entry Q8TAM1

    ProtoNet protein and cluster: Q8TAM1

    UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1
    Similarity: Belongs to the TCP-1 chaperonin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1
    Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT
    complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles
    to the cilia. Involved in adipogenic differentiation

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--


    BBS10 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BBS10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/20 Interacting proteins for BBS10 (Q8TAM11, 2, 3 ENSP000003769464) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K7O433182, 3, ENSP000003583354MINT-8259888 I2D: score=2 STRING: ENSP00000358335
    RASA1P209362, 3, ENSP000002743764MINT-8268196 I2D: score=2 STRING: ENSP00000274376
    YAE1D1Q9NRH12, 3, ENSP000002232734MINT-8250123 I2D: score=2 STRING: ENSP00000223273
    CSNK1EP496742, 3MINT-8252692 I2D: score=2 
    FRZBQ927652, 3MINT-8255448 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IMP17980398
    GO:0035058nonmotile primary cilium assembly IMP17980398
    GO:0044267cellular protein metabolic process IEA--
    GO:0045494photoreceptor cell maintenance IMP17980398
    GO:0050896response to stimulus IEA--


    BBS10 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BBS10
    Search CenterWatch for drugs/clinical trials and news about BBS10 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BBS10 gene: 
    NM_024685.3  

    Unigene Cluster for BBS10:

    Bardet-Biedl syndrome 10
    Hs.96322  [show with all ESTs]
    Unigene Representative Sequence: NM_024685
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393262(uc001syd.1) ENST00000547830

    miRNA
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    hsa-miR-501-5p hsa-miR-3919 hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidBBS10 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK027213.1 AK225585.1 AK304178.1 BC026355.1 

    3 DOTS entries:

    DT.409971  DT.91906473  DT.95120172 

    24/58 AceView cDNA sequences (see all 58):

    AI673014 BM453668 AW963976 BM543326 BC013795 BM904438 BI756814 N51560 
    AI559305 AI357206 BF968805 AK027213 BM714502 BI462570 BX485194 AW449124 
    AA621536 BU178958 CB267432 CA430896 BU166359 BX641893 AW001748 BG701297 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for BBS10    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b
    SP1:                              
    SP2:                              


    ECgene alternative splicing isoforms for BBS10

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BBS10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATTTACTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See BBS10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BBS10

    SOURCE GeneReport for Unigene cluster: Hs.96322
        SABiosciences Custom PCR Arrays for BBS10
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS10

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BBS10 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bbs101 , 5 Bardet-Biedl syndrome 10 (human)1, 5 78.4(n)1
    68.17(a)1
      10 (58.46 cM)5
    717691  NM_027914.11  NP_082190.11 
     1112986795 
    chicken
    (Gallus gallus)
    Aves BBS106
    Uncharacterized protein
    38(a)
    1 ↔ 1
    1(39902942-39904441)
    lizard
    (Anolis carolinensis)
    Reptilia BBS106
    --
    37(a)
    1 ↔ 1
    4(5811745-5817703)
    zebrafish
    (Danio rerio)
    Actinopterygii bbs101 Bardet-Biedl syndrome 10 47.3(n)
    33.77(a)
      100034535  NM_001089463.1  NP_001082932.1 


    ENSEMBL Gene Tree for BBS10 (if available)
    TreeFam Gene Tree for BBS10 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/129 NCBI SNPs in BBS10 are shown (see all 129    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1472417531,2
    C,F,probable-non-pathogenic139087050(+) GCTCCA/GTGTAA 2 H syn11Minor allele frequency- G:0.00NA 4534
    rs1415219251,2
    C,F,probable-pathogenic139087541(+) GTAACT/CTACAG 2 /K /R mis11Minor allele frequency- C:0.00NA 4536
    rs1428636011,2
    C,F,unknown139086229(+) ACCGTC/TTAATA 2 N D mis12Minor allele frequency- T:0.01NA EU 5835
    rs1155168811,2
    C,F,--73790509(+) TCATAT/CAGCAT 1 -- ut311Minor allele frequency- C:0.03WA 118
    rs733900671,2
    C,F,--73790952(+) TGGCTA/GTGCAC 1 -- ut313Minor allele frequency- G:0.22WA CSA 122
    rs733835201,2
    C,F,--73790988(+) CATGAC/GATATC 1 -- ut315Minor allele frequency- G:0.17WA CSA NA 244
    rs784024951,2
    F,--73791125(+) AAGGTA/GTATCA 1 -- ut311Minor allele frequency- G:0.03EA 120
    rs795173221,2
    C,F,--73791259(+) TTTTAT/CGCTTT 1 -- ut311Minor allele frequency- C:0.07NA 120
    rs120998471,2
    C,H--73791570(+) CTCTAG/AATTTG 1 -- ut31 ese36Minor allele frequency- A:0.00NS EA NA 420
    rs120998801,2
    C,F,H--73792028(+) CATTAG/ACTATT 2 /A /V mis1 ese38Minor allele frequency- A:0.01NS EA NA 882

    HapMap Linkage Disequilibrium report for BBS10 (76738254 - 76742222 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BBS10: --
    Human Gene Mutation Database (HGMD): BBS10

    Locus Specific Mutation Databases (LSDB): BBS10

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS10
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BBS10 for disorders           About GeneDecksing

    OMIM gene information: 610148   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1
  • Defects in BBS10 are the cause of Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]. Bardet-Biedl syndrome
  • (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary
    retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation

    10 diseases for BBS10:    About MalaCards
    bardet-biedl syndrome    bardet-biedl syndrome 10    bardet-biedl syndrome 12    polydactyly
    obesity    retinitis    retinal degeneration    pigmentary retinopathy
    fundus dystrophy    retinal disease

    1 disease from the University of Copenhagen DISEASES database for BBS10:
    Polydactyly
    GeneTests: BBS10
    Bardet-Biedl Syndrome

    Human Genome Epidemiology (HuGE) Navigator: BBS10 (2 documents)

    Export disorders for BBS10 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BBS10 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with BBS10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. (PubMed id 16582908)1, 2, 3 Stoetzel C.... Dollfus H. (2006)
    2. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. (PubMed id 19190184)1, 2 Marion V.... Dollfus H. (2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PubMed id 21344540)2 Deveault C....Heon E. (2011)
    6. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Chaperonin genes on the rise: new divergent classes a nd intense duplication in human and other vertebrate genomes. (PubMed id 20193073)1 Mukherjee K....Brocchieri L. (2010)
    9. Mutations in chaperonin-like BBS genes are a major co ntributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. (PubMed id 20472660)1 Billingsley G....HAcon E. (2010)
    10. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PubMed id 20080638)2 Seo S....Sheffield V.C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79738 HGNC: 26291 AceView: FLJ23560 Ensembl:ENSG00000179941 euGenes: HUgn79738
    ECgene: BBS10 H-InvDB: BBS10

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BBS10 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS10

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BBS10 gene:
    Search GeneIP for patents involving BBS10

    GeneCards and IP:
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