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

C9orf64 Gene

protein-coding   GIFtS: 45
GCID: GC09M086553

chromosome 9 open reading frame 64

  Search for C9orf64
in our new
 Human Malady Compendium 
Biological research products
for C9orf64
    

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

Aliases
Chromosome 9 Open Reading Frame 641 2
MGC109991
UPF0553 Protein C9orf642

External Ids:    HGNC: 281441   Entrez Gene: 842672   Ensembl: ENSG000001651187   OMIM: 6113425   UniProtKB: Q5T6V53   

Export aliases for C9orf64 gene to outside databases

Previous GC identifers: GC09M082010 GC09M083782 GC09M085743 GC09M056378


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

Gene Wiki entry for C9orf64


(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_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C9orf64 gene promoter:
         Nkx3-1   Nkx3-1 v1   Nkx2-5   Nkx3-1 v2   MEF-2A   AREB6   PPAR-gamma1   Nkx6-1   PPAR-gamma2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC9orf64 promoter sequence
   Search SABiosciences Chromatin IP Primers for C9orf64

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf64


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

Entrez Gene cytogenetic band: 9q21.32   Ensembl cytogenetic band:  9q21.32   HGNC cytogenetic band: 9q22.1

C9orf64 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf64 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M086553:  view genomic region     (about GC identifiers)

Start:
86,553,226 bp from pter      End:
86,571,901 bp from pter
Size:
18,676 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: CI064_HUMAN, Q5T6V5 (See protein sequence)
Recommended Name: UPF0553 protein C9orf64  
Size: 341 amino acids; 39029 Da
Sequence caution: Sequence=BAC03538.1; Type=Erroneous initiation;
Secondary accessions: B2RPI6 Q8N2B1 Q9BT18

Explore the universe of human proteins at neXtProt for C9orf64: NX_Q5T6V5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T6V5

  • C9orf64 Protein expression data from MOPED and PaxDb:    About this image 
    C9orf64 Protein Expression
    REFSEQ proteins: NP_115683.3  
    ENSEMBL proteins: 
     ENSP00000365522   ENSP00000318375   ENSP00000365518  

    Human Recombinant Protein Products for C9orf64: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for C9orf64

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    C9orf64 for ontologies           About GeneDecksing



    C9orf64 Antibody Products: 
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    Uscn ELISAs and CLIAs for C9orf64


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

    C9orf64 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019438 DUF2419

    Graphical View of Domain Structure for InterPro Entry Q5T6V5

    ProtoNet protein and cluster: Q5T6V5

    UniProtKB/Swiss-Prot: CI064_HUMAN, Q5T6V5
    Similarity: Belongs to the UPF0553 family


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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    C9orf64 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C9orf64 

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate C9orf64:
    hsa-miR-3910 hsa-miR-3658 hsa-miR-4310 hsa-miR-330-3p hsa-miR-3653 hsa-miR-1179 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidC9orf64 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf64 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf64


    (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 C9orf64

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for C9orf64 (Q5T6V53 ENSP000003655224) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP3A4P086843I2D: score=5 
    C12orf44Q9BSB43I2D: score=1 
    NRBF2Q96F243I2D: score=1 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    KDSRENSP000003850834STRING: ENSP00000385083
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    C9orf64 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 C9orf64
    Search CenterWatch for drugs/clinical trials and news about C9orf64 / CI064 

    (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, Sirion Biotech, 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 C9orf64 gene: 
    NM_032307.3  

    Unigene Cluster for C9orf64:

    Chromosome 9 open reading frame 64
    Hs.208914  [show with all ESTs]
    Unigene Representative Sequence: NM_032307
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376344(uc004anb.3) ENST00000314700(uc004anc.3) ENST00000376340


    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate C9orf64:
    hsa-miR-3910 hsa-miR-3658 hsa-miR-4310 hsa-miR-330-3p hsa-miR-3653 hsa-miR-1179 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidC9orf64 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C9orf64
    OriGene shRNA RFP: C9orf64
    OriGene siRNA: C9orf64
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C9orf64
    Sirion Biotech Custom design and validation of potent shRNA sequences against C9orf64 
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C9orf64 (see all 2)
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    Additional cDNA sequence: 

    AK090882.1 BC004407.1 BC137461.1 BC137462.1 

    3 DOTS entries:

    DT.75100384  DT.40203918  DT.91694212 

    24/61 AceView cDNA sequences (see all 61):

    AA377201 BX345841 AI383619 BC004407 AI298513 BU178229 AA417987 BM903795 
    BI256274 BE268103 BG700001 BI254431 CA413375 AI270221 BE409435 BX458515 
    BG286998 BI094174 BE396714 AX746663 AW407539 BI254490 BE884964 BU178879 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf64    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6
    SP1:                    -     -                       -               
    SP2:                                                  -               
    SP3:                    -                                             
    SP4:                    -     -     -                                 


    ECgene alternative splicing isoforms for C9orf64

    (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

    C9orf64 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTTCAATT
    C9orf64 Expression
    About this image

    C9orf64 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEndocardiumCushion Mesenchymal CellsEndocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C9orf64 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C9orf64

    SOURCE GeneReport for Unigene cluster: Hs.208914
        SABiosciences Custom PCR Arrays for C9orf64
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf64

    (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 eukaryotes.

    Orthologs for C9orf64 gene from 8/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2210016F16Rik1 , 5 RIKEN cDNA 2210016F16 gene1, 5 79.54(n)1
    78.14(a)1
      13 (31.04 cM)5
    701531  NM_027335.11  NP_081611.11 
     583800465 
    chicken
    (Gallus gallus)
    Aves CZH9orf641 chromosome Z open reading frame, human C9orf64 71.16(n)
    70.67(a)
      427457  XM_001231513.2  XP_001231514.2 
    lizard
    (Anolis carolinensis)
    Reptilia C9orf646
    --
    71(a)
    1 ↔ 1
    2(42599737-42605913)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.155782 Xenopus laevis transcribed sequence with moderate similarity more 73.06(n)    CD325034.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1365641 zgc:136564 58.51(n)
    51.62(a)
      566166  NM_001083558.1  NP_001077027.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG97521 CG9752 51.51(n)
    44.88(a)
      37431  NM_137729.2  NP_611573.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C11D2.41 Protein C11D2.4 52.61(n)
    47.2(a)
      177378  NM_068523.6  NP_500924.2 
    rice
    (Oryza sativa)
    Liliopsida --
    GA22009-PA, putative, expressed
    35(a)
    1 ↔ 1
    7(23984280-23988962)


    ENSEMBL Gene Tree for C9orf64 (if available)
    TreeFam Gene Tree for C9orf64 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C9orf64 gene

    C9orf64 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C9orf64
    PGOHUM00000237951


    (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

    10/341 NCBI SNPs in C9orf64 are shown (see all 341    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1480623651,2
    --86552897(+) CTCCTA/GTGGTT 1 -- int10--------
    rs1116823661,2
    F--86553008(+) AAAGGG/ACATCT 1 -- int12Minor allele frequency- A:0.50CSA 4
    rs1835480881,2
    --86553095(+) GTGGCA/GGGGGT 1 -- int10--------
    rs101148891,2
    C,F,A,H--86553106(+) GGTGGG/CAAATG 1 -- int113Minor allele frequency- C:0.31NS EA NA WA CSA 752
    rs1418082931,2
    --86553190(+) TATATA/GGTAAA 1 -- int10--------
    rs1162953101,2
    --86553311(+) GAAAAA/TCATGA 1 -- ut310--------
    rs1874379361,2
    --86553380(+) TTTTAC/TAAGAA 1 -- ut310--------
    rs1917863521,2
    --86553388(+) GAACAA/GCATTC 1 -- ut310--------
    rs734693531,2
    C--86553396(+) TTCATA/GTATCA 1 -- ut312Minor allele frequency- G:0.16WA 120
    rs1173552031,2
    --86553538(+) TAAATA/GAAATA 1 -- ut311Minor allele frequency- G:0.01NA 120

    HapMap Linkage Disequilibrium report for C9orf64 (86553226 - 86571901 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for C9orf64
         2 CNVs: 31520 3773
         1 Inversion: 29497

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C9orf64
    DNA2.0 Custom Variant and Variant Library Synthesis for C9orf64

    (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

    C9orf64 for disorders           About MalaCards

    C9orf64 for disorders           About GeneDecksing

    OMIM gene information: 611342    OMIM disorders: --


    Export disorders for C9orf64 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 C9orf64 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C9orf64)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (2010)
    9. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      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: 84267 HGNC: 28144 AceView: C9orf64 Ensembl:ENSG00000165118 euGenes: HUgn84267
    ECgene: C9orf64 H-InvDB: C9orf64

    (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 C9orf64 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 C9orf64 gene:
    Search GeneIP for patents involving C9orf64

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



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