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

ERMN Gene

protein-coding   GIFtS: 47
GCID: GC02M158175

ermin, ERM-like protein

(Previous name: KIAA1189 )
(Previous symbol: KIAA1189)
 Explore 3 diseases affiliated with
ERMN via our new
 Human Malady Compendium 
Biological research products
for ERMN
    

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

Aliases
Ermin, ERM-Like Protein1 2     Ermin1
JN1 2 3     Juxtanodin3
KIAA11891 2 3     Juxtanodin3
ERMIN1     

External Ids:    HGNC: 292081   Entrez Gene: 574712   Ensembl: ENSG000001365417   OMIM: 6100725   UniProtKB: Q8TAM63   

Export aliases for ERMN gene to outside databases

Previous GC identifers: GC02M157884 GC02M150060


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

UniProtKB/Swiss-Prot: ERMIN_HUMAN, Q8TAM6
Function: Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of
myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in
late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance
and plasticity of related structures in the mature CNS (By similarity)




(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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ERMN gene promoter:
         FOXF2   aMEF-2   CUTL1   FOXL1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ERMN promoter sequence
   Search SABiosciences Chromatin IP Primers for ERMN

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


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

Entrez Gene cytogenetic band: 2q24.1   Ensembl cytogenetic band:  2q24.1   HGNC cytogenetic band: 2q24

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M158175:  view genomic region     (about GC identifiers)

Start:
158,175,125 bp from pter      End:
158,184,225 bp from pter
Size:
9,101 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: ERMIN_HUMAN, Q8TAM6 (See protein sequence)
Recommended Name: Ermin  
Size: 284 amino acids; 32783 Da
Subunit: Binds actin (By similarity)
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
Sequence caution: Sequence=BAA86503.1; Type=Erroneous initiation;
Secondary accessions: B4DKA6 Q9ULN1
Alternative splicing: 2 isoforms:  Q8TAM6-1   Q8TAM6-2   

Explore the universe of human proteins at neXtProt for ERMN: NX_Q8TAM6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TAM6

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001009959.1  NP_065762.1  

    ENSEMBL proteins: 
     ENSP00000387047   ENSP00000380453   ENSP00000387339   ENSP00000410646   ENSP00000398149  
     ENSP00000389595   ENSP00000387049   ENSP00000387325   ENSP00000410934   ENSP00000438397  

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    Novus Biologicals ERMN Protein
    Novus Biologicals ERMN Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ERMN

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0030175filopodium IEA--
    GO:0033269internode region of axon IEA--
    GO:0033270paranode region of axon IEA--


    ERMN 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

    ProtoNet protein and cluster: Q8TAM6


    (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: ERMIN_HUMAN, Q8TAM6
    Function: Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of
    myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in
    late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance
    and plasticity of related structures in the mature CNS (By similarity)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERMN
    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate ERMN (see all 29):
    hsa-miR-320a hsa-miR-181c hsa-miR-376b hsa-miR-4263 hsa-miR-4305 hsa-miR-139-5p hsa-miR-944 hsa-miR-3923
    SwitchGear 3'UTR luciferase reporter plasmidERMN 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051015actin filament binding IEA--


    ERMN for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ERMN:
     Wnt reporter upregulated 


    (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 ERMN

    2 Interacting proteins for ERMN (Q8TAM63) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JUNP054123I2D: score=2 
    CTNNB1P352223I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001763morphogenesis of a branching structure IEA--
    GO:0007015actin filament organization IEA--
    GO:0008360regulation of cell shape IEA--
    GO:0031344regulation of cell projection organization IEA--


    ERMN 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 ERMN
    Search CenterWatch for drugs/clinical trials and news about ERMN / ERMIN 

    (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 ERMN gene (2 alternative transcripts): 
    NM_001009959.1  NM_020711.1  

    Unigene Cluster for ERMN:

    Ermin, ERM-like protein
    Hs.443894  [show with all ESTs]
    Unigene Representative Sequence: NM_020711
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000410096(uc010zcj.2 uc002tzh.3 uc010zck.2) ENST00000397283(uc002tzi.3)
    ENST00000409395 ENST00000420719 ENST00000420317 ENST00000411762 ENST00000409216
    ENST00000409925 ENST00000419116 ENST00000535935

    miRNA
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    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate ERMN (see all 29):
    hsa-miR-320a hsa-miR-181c hsa-miR-376b hsa-miR-4263 hsa-miR-4305 hsa-miR-139-5p hsa-miR-944 hsa-miR-3923
    SwitchGear 3'UTR luciferase reporter plasmidERMN 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB033015.1 AK295844.1 AK296477.1 AK296489.1 BC026345.1 DQ334271.1 

    8 DOTS entries:

    DT.101973982  DT.121006279  DT.121006269  DT.209970  DT.121006264  DT.121006278  DT.121006262  DT.121006277 

    24/64 AceView cDNA sequences (see all 64):

    AV703122 BC026345 BX952057 BX449196 BI819519 AB033015 N50208 BX279782 
    AA651956 BI753117 AA761058 N50020 N54676 AA291064 CK001919 N49084 
    BF967531 BI544353 CD102785 CD102786 BI604055 BI603436 BI550933 BG705009 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ERMN (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f
    SP1:        -     -     -     -     -                 -     -                 -     -     -                                       
    SP2:                    -     -     -                 -     -                 -     -     -                                       
    SP3:                    -     -     -     -           -     -                 -     -     -                                       
    SP4:                                                  -     -                 -           -                                       
    SP5:                                                  -     -                 -     -     -                                       


    ECgene alternative splicing isoforms for ERMN

    (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

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

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

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

    SOURCE GeneReport for Unigene cluster: Hs.443894

    UniProtKB/Swiss-Prot: ERMIN_HUMAN, Q8TAM6
    Tissue specificity: Highly expressed in adult and fetal brain. Expressed at intermediate levels in the lung and liver

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    In Situ
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    (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 ERMN gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ermn1 , 5 ermin, ERM-like protein1, 5 74.37(n)1
    61.37(a)1
      2 (32.99 cM)5
    777671  NM_029972.31  NP_084248.21 
     580451135 
    chicken
    (Gallus gallus)
    Aves ERMN1 ermin, ERM-like protein 59.68(n)
    56.19(a)
      771826  XM_001235050.2  XP_001235051.1 
    lizard
    (Anolis carolinensis)
    Reptilia ERMN6
    --
    47(a)
    1 ↔ 1
    GL343254.1(462516-462962)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG812811.12   -- 76.06(n)    BG812811.1 


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

    10/172 NCBI SNPs in ERMN are shown (see all 172    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs134304361,2
    C,F,H,--158174634(+) TTATTA/TTACTC 2 -- int14Minor allele frequency- T:0.01NS EA 418
    rs1476419111,2
    --158174659(+) TCTCC-/ATAA  
      TTCTCT
    ATTAT
    2 -- int10--------
    rs1844060811,2
    --158174672(+) CTATTA/GTTACT 2 -- int10--------
    rs1869006831,2
    --158174775(+) AGAAAC/TGATTG 2 -- int10--------
    rs1915095401,2
    --158174799(+) AGCATA/GGTTTA 2 -- int10--------
    rs1847687301,2
    --158174844(+) AAGTTG/TTTCGT 2 -- int10--------
    rs1427685501,2
    --158175013(+) GTGTTC/TTCTTG 2 -- int10--------
    rs1460796261,2
    --158175031(+) AAGAGG/TTATTC 2 -- int10--------
    rs1155110121,2
    F,--158175100(+) CTAAAC/GAAAAT 2 -- int11Minor allele frequency- G:0.03WA 118
    rs1894967481,2
    --158175128(+) AATAAA/GGACAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ERMN (158175125 - 158184225 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ERMN
         1 CNV: 98025

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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

    ERMN for disorders           About GeneDecksing

    OMIM gene information: 610072    OMIM disorders: --

    3 diseases for ERMN:    About MalaCards
    conduct disorder    seizures    schizophrenia

    Human Genome Epidemiology (HuGE) Navigator: ERMN (1 document)

    Export disorders for ERMN 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 ERMN gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with ERMN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ermin, a myelinating oligodendrocyte-specific protein that regulates cell morphology. (PubMed id 16421295)1, 2, 3 Brockschnieder D.... Peles E. (2006)
    2. Juxtanodin: an oligodendroglial protein that promotes cellular arborization and 2',3'-cyclic nucleotide-3'-phosphodiesterase trafficking. (PubMed id 16051705)1, 3 Zhang B....Liang F. (2005)
    3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    4. Human Ermin (hErmin), a new oligodendrocyte-specific cytoskeletal protein related to epileptic seizure. (PubMed id 20934411)1 Wang T....Zhang B. (2011)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. Evidence for genes on chromosome 2 contributing to al cohol dependence with conduct disorder and suicide attempts. (PubMed id 20468071)1 Dick D.M....Bierut L. (2010)
    7. Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. (PubMed id 19953087)1 Persaud A....Rotin D. (2009)
    8. Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. (PubMed id 19165527)1 Martins-de-Souza D....Turck C.W. (2009)
    9. Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis. (PubMed id 19034380)1 Martins-de-Souza D....Dias-Neto E. (2008)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57471 HGNC: 29208 AceView: KIAA1189 Ensembl:ENSG00000136541 euGenes: HUgn57471
    ECgene: ERMN H-InvDB: ERMN

    (According to HUGE)
    About This Section
    HUGE: KIAA1189

    (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 ERMN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ERMN gene:
    Search GeneIP for patents involving ERMN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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