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

ZNF513 Gene

protein-coding   GIFtS: 48
GCID: GC02M027600

zinc finger protein 513

 Explore 8 diseases affiliated with
ZNF513 via our new
 Human Malady Compendium 
Biological research products
for ZNF513
    

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

Aliases
Zinc Finger Protein 5131 2
RP582 5
FLJ322031
HMFT06562

External Ids:    HGNC: 264981   Entrez Gene: 1305572   Ensembl: ENSG000001637957   OMIM: 6135985   UniProtKB: Q8N8E23   

Export aliases for ZNF513 gene to outside databases

Previous GC identifers: GC02M027574 GC02M027511 GC02M027455 GC02M027342


(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 ZNF513:
The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in
this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: ZN513_HUMAN, Q8N8E2
Function: Transcriptional regulator that plays a role in retinal development and maintenance




(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_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZNF513 gene promoter:
         AP-1   Pax-5   Lmo2   Tal-1beta   CBF-C   E47   CBF-A   CBF-B   Pax-4a   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF513 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZNF513

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF513


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

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3

ZNF513 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF513 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M027600:  view genomic region     (about GC identifiers)

Start:
27,600,098 bp from pter      End:
27,603,657 bp from pter
Size:
3,560 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: ZN513_HUMAN, Q8N8E2 (See protein sequence)
Recommended Name: Zinc finger protein 513  
Size: 541 amino acids; 57882 Da
Subunit: Binds DNA. Can associate with the proximal promoter regions of PAX6 and SP4, and their known targets including
ARR3, RHO, OPN1MW2 and OPN1SW
Subcellular location: Nucleus
Sequence caution: Sequence=BAB71274.1; Type=Erroneous initiation;
Secondary accessions: A8K3S5 B7WP71 Q3ZCU1 Q68CJ1 Q86UZ3 Q8NDL8 Q96ML3
Alternative splicing: 3 isoforms:  Q8N8E2-1   Q8N8E2-2   Q8N8E2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZNF513: NX_Q8N8E2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N8E2

  • ZNF513 Protein expression data from MOPED and PaxDb:    About this image 
    ZNF513 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001188388.1  NP_653232.3  

    ENSEMBL proteins: 
     ENSP00000318373   ENSP00000384874   ENSP00000394226  

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    Uscn Proteins for ZNF513

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--

    ZNF513 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

    ZNF513 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q8N8E2

    ProtoNet protein and cluster: Q8N8E2

    UniProtKB/Swiss-Prot: ZN513_HUMAN, Q8N8E2
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 8 C2H2-type zinc fingers


    (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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZN513_HUMAN, Q8N8E2
    Function: Transcriptional regulator that plays a role in retinal development and maintenance

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA--
    GO:0008270zinc ion binding IEA--
    GO:0044212transcription regulatory region DNA binding IDA--
         
    ZNF513 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ZNF513:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ZNF513 

    10/460 SABiosciences Target genes for ZNF513 (see all 460):
    ABCD2 ABHD13 ABI2 ABTB2 ADCYAP1R1 AHCYL2 AHSA1 AIDA AKAP11 AKR7A2

    miRNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF513


    (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 ZNF513

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/8 Interacting proteins for ZNF513 (Q8N8E23 ENSP000003183734) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPARGC1BQ86YN63, ENSP000003126494I2D: score=1 STRING: ENSP00000312649
    ZFP64Q9NPA53, ENSP000002169234I2D: score=1 STRING: ENSP00000216923
    ZZZ3Q8IYH53, ENSP000003598374I2D: score=1 STRING: ENSP00000359837
    POU5F1Q018603I2D: score=2 
    NKD2Q969F23I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0007601visual perception IEA--
    GO:0050896response to stimulus IEA--
    GO:0060041retina development in camera-type eye IMP--

    ZNF513 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 ZNF513
    Search CenterWatch for drugs/clinical trials and news about ZNF513 / ZN513 

    (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 ZNF513 gene (2 alternative transcripts): 
    NM_001201459.1  NM_144631.5  

    Unigene Cluster for ZNF513:

    Zinc finger protein 513
    Hs.515872  [show with all ESTs]
    Unigene Representative Sequence: NM_144631
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323703(uc002rkk.3) ENST00000407879(uc002rkj.3) ENST00000491924
    ENST00000436006

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate ZNF513:
    hsa-miR-142-5p hsa-miR-361-3p hsa-miR-4255 hsa-miR-331-3p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidZNF513 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZNF513
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    Additional cDNA sequence: 

    AB075875.1 AK056765.1 AK096933.1 AK290690.1 BC040650.1 BC052282.1 

    15 DOTS entries:

    DT.208617  DT.95223874  DT.95223940  DT.92008771  DT.100682843  DT.100031576  DT.437116  DT.85104263 
    DT.97788854  DT.92463194  DT.95223936  DT.100807245  DT.92463197  DT.92463217  DT.95318645 

    24/126 AceView cDNA sequences (see all 126):

    AK056765 BC052282 BG820518 AA648531 AI093552 AB075875 BU733013 AI766724 
    AL534516 AI140313 CB153131 AA421294 BM692506 NM_144631 AI080715 AI088608 
    CA312898 AK096933 BQ072985 BU687338 AL833946 AI167835 CR620947 AI420829 

    GeneLoc Exon Structure


    (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

    ZNF513 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCGGGGGGG
    ZNF513 Expression
    About this image
    See ZNF513 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZNF513

    SOURCE GeneReport for Unigene cluster: Hs.515872

    UniProtKB/Swiss-Prot: ZN513_HUMAN, Q8N8E2
    Tissue specificity: In the retina, expressed in the outer and inner nuclear layers, and the ganglion cell layer

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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 animals.

    Orthologs for ZNF513 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ZNF5131 zinc finger protein 513 66.98(n)
    64.2(a)
      421989  XM_419998.3  XP_419998.3 
    lizard
    (Anolis carolinensis)
    Reptilia ZNF5136
    --
    66(a)
    1 ↔ 1
    AAWZ02039497(3222-3500)
    zebrafish
    (Danio rerio)
    Actinopterygii znf5131 zinc finger protein 513 58.64(n)
    56.72(a)
      568216  XM_691532.5  XP_696624.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hb6
    hunchback
    6(a)
    1 → many
    3R(4517038-4523540)
    worm
    (Caenorhabditis elegans)
    Secernentea hbl-16
    Hunchback-like protein
    3(a)
    1 → many
    X(5822242-5826399)


    ENSEMBL Gene Tree for ZNF513 (if available)
    TreeFam Gene Tree for ZNF513 (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

    10/65 NCBI SNPs in ZNF513 are shown (see all 65    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1127422311,2
    F--27344081(+) GCAGTT/AATTCC 2 -- int12Minor allele frequency- A:0.50CSA 4
    rs616966141,2
    C--27344347(+) TCTCTG/AAGGCA 2 -- int12Minor allele frequency- A:0.04WA 120
    rs1128893701,2
    C--27344852(+) AAACTT/AAACCA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs2010740411,2
    --27601107(+) GAATAA/GCAGCT 4 L syn10--------
    rs356521291,2
    C--27601152(-) GTGAAG/AGGGAG 4 /R /G mis12Minor allele frequency- A:0.02NA 66
    rs617401381,2
    C,F--27601160(+) CACCCC/TGCAGC 4 Q R mis13Minor allele frequency- T:0.01NS WA NA 4578
    rs1396311941,2
    C,F--27601172(+) GCCCAC/GAGTCT 4 S C mis12Minor allele frequency- G:0.00NA EU 5645
    rs1922219631,2
    C--27601311(+) AAGATC/GTTTGG 2 -- int10--------
    rs617424281,2
    C,F--27601352(+) GGGCAC/TCGCCC 4 M V mis12Minor allele frequency- T:0.00NS NA 3394
    rs2010946561,2
    --27601373(+) TGTGGG/TACTGG 4 T P mis10--------

    HapMap Linkage Disequilibrium report for ZNF513 (27600098 - 27603657 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ZNF513: --
    Human Gene Mutation Database (HGMD): ZNF513

    SABiosciences Cancer Mutation PCR Assays
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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

    ZNF513 for disorders           About GeneDecksing

    OMIM gene information: 613598   
    OMIM disorders: 613617  
    UniProtKB/Swiss-Prot: ZN513_HUMAN, Q8N8E2
  • Defects in ZNF513 are the cause of retinitis pigmentosa type 58 (RP58) [MIM:613617]. A retinal dystrophy
  • belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits
    visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone
    photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their
    condition progresses, they lose their far peripheral visual field and eventually central vision as well

    8 diseases for ZNF513:    About MalaCards
    retinitis pigmentosa    retinitis    pigmentary retinopathy    night blindness
    blindness    hepatoblastoma    pharyngitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ZNF513:
    Night blindness
    Human Genome Epidemiology (HuGE) Navigator: ZNF513 (3 documents)

    Export disorders for ZNF513 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 ZNF513 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with ZNF513)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in ZNF513, a putative regulator of photore ceptor development, causes autosomal-recessive retinitis pigmentosa. (PubMed id 20797688)1, 2 Li L....Hejtmancik J.F. (2010)
    2. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    6. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    8. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 130557 HGNC: 26498 AceView: ZNF513 Ensembl:ENSG00000163795 euGenes: HUgn130557
    ECgene: ZNF513 H-InvDB: ZNF513

    (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 ZNF513 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 ZNF513 gene:
    Search GeneIP for patents involving ZNF513

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



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