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

VWCE Gene

protein-coding   GIFtS: 43
GCID: GC11M061025

von Willebrand factor C and EGF domains

 Explore 5 diseases affiliated with
VWCE via our new
 Human Malady Compendium 
Biological research products
for VWCE
    

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

Aliases
Von Willebrand Factor C And EGF Domains1 2     HBxAg Up-Regulated Gene 11 Protein2 3
URG111 2 3 5     FLJ320091
VWC11 2 5     Von Willebrand Factor C And EGF Domain-Containing Protein2
HBV X Protein Up-Regulated Gene 11 Protein2 3     

External Ids:    HGNC: 264871   Entrez Gene: 2200012   Ensembl: ENSG000001679927   OMIM: 6111155   UniProtKB: Q96DN23   

Export aliases for VWCE gene to outside databases

Previous GC identifers: GC11M060783 GC11M057353


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

UniProtKB/Swiss-Prot: VWCE_HUMAN, Q96DN2
Function: May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of
hapatocellular carcinoma




(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_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VWCE gene promoter:
         Sp1   AML1a   Tal-1   AP-4   AP-2gamma   E47   CREB   deltaCREB   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVWCE promoter sequence
   Search SABiosciences Chromatin IP Primers for VWCE

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


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

Entrez Gene cytogenetic band: 11q12.2   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q12.2

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M061025:  view genomic region     (about GC identifiers)

Start:
61,025,758 bp from pter      End:
61,062,896 bp from pter
Size:
37,139 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: VWCE_HUMAN, Q96DN2 (See protein sequence)
Recommended Name: von Willebrand factor C and EGF domain-containing protein precursor  
Size: 955 amino acids; 99915 Da
Subcellular location: Secreted (Potential). Note=According to PubMed:16496348 is localized in the cytoplasm
Sequence caution: Sequence=AAO47606.1; Type=Frameshift; Positions=210, 232, 745, 761, 769, 837, 912;
Secondary accessions: A5PKV0 Q7Z7L6 Q86WK8
Alternative splicing: 2 isoforms:  Q96DN2-1   Q96DN2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VWCE: NX_Q96DN2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96DN2

  • VWCE Protein expression data from MOPED and PaxDb:    About this image 
    VWCE Protein Expression
    REFSEQ proteins: NP_689931.2  
    ENSEMBL proteins: 
     ENSP00000301770   ENSP00000334186   ENSP00000442570   ENSP00000441565  

    Human Recombinant Protein Products for VWCE: 
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    Uscn Proteins for VWCE

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    VWCE for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for VWCE


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

    VWCE for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR001881 EGF-like_Ca-bd
     IPR000742 EG-like_dom
     IPR013032 EGF-like_CS
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q96DN2

    ProtoNet protein and cluster: Q96DN2

    3 Blocks protein families:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001007 von Willebrand factor
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: VWCE_HUMAN, Q96DN2
    Similarity: Contains 4 EGF-like domains
    Similarity: Contains 6 VWFC domains


    (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: VWCE_HUMAN, Q96DN2
    Function: May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of
    hapatocellular carcinoma
    Induction: By HBxAg

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    VWCE for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for VWCE:
     Decreased viability 

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

    miRNA
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWCE


    (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 VWCE

    (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 VWCE
    Search CenterWatch for drugs/clinical trials and news about VWCE 

    (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 VWCE gene: 
    NM_152718.2  

    Unigene Cluster for VWCE:

    Von Willebrand factor C and EGF domains
    Hs.60640  [show with all ESTs]
    Unigene Representative Sequence: NM_152718
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301770 ENST00000335613(uc001nra.3 uc001nrb.3) ENST00000535710
    ENST00000538438 ENST00000398808 ENST00000535599 ENST00000538579

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VWCE
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    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VWCE
    OriGene shRNA RFP: VWCE
    OriGene siRNA: VWCE
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VWCE
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VWCE

    Additional cDNA sequence: 

    AK056571.1 AK299583.1 AK302241.1 BC042143.1 BC052564.1 BC077719.1 BC142624.1 

    5 DOTS entries:

    DT.100778136  DT.207448  DT.207449  DT.100715608  DT.120754830 

    24/54 AceView cDNA sequences (see all 54):

    H74100 BC052564 CB988642 BQ066320 BQ642831 AA328361 BC042143 BQ653752 
    BM694786 AK056571 NM_152718 BC077719 BE464430 AW015067 BI252025 BX283551 
    CB240652 CD637970 AW081236 CD637965 AY205235 BX371953 CD637969 BQ062827 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for VWCE    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                                                                            -                                             
    SP2:                                                                                            -     -                                       
    SP3:                                                                                                                                          


    ECgene alternative splicing isoforms for VWCE

    (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

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

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

    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.60640

    UniProtKB/Swiss-Prot: VWCE_HUMAN, Q96DN2
    Tissue specificity: Expressed in liver

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWCE

    (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 VWCE gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia VWCE6
    --
    64(a)
    1 ↔ 1
    GL343235.1(711401-741544)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01075689.16
    --

    1 → many
    22(4162619-4176901)
    worm
    (Caenorhabditis elegans)
    Secernentea fbn-16
    FiBrilliN homolog family member (fbn-1)
    4(a)
    1 → many
    III(7625311-7640988)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VWCE gene
    CHRD2  CHRDL12  CRIM12  CHRDL22  

    VWCE for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for VWCE
    PGOHUM00000260288 PGOHUM00000260289


    (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

    10/630 NCBI SNPs in VWCE are shown (see all 630    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744008921,2
    C--61025288(-) GCTCCC/AACTTA 1 -- ds50013Minor allele frequency- A:0.17NA 6
    rs122802391,2
    C,H--61025343(+) ctgggG/Ttctat 1 -- ds50015Minor allele frequency- T:0.00NS EA NA 422
    rs1139968721,2
    C--61025470(+) TTTAAC/GTATAT 1 -- ds50010--------
    rs617429211,2
    C--61025737(+) GTAAGC/TGGTGA 1 -- ds50011Minor allele frequency- T:0.02NS 60
    rs1425015971,2
    --61025738(+) TAAGCA/GGTGAA 1 -- ds50010--------
    rs1459378551,2
    --61025921(+) CCAGGC/GAGGAT 1 -- ut310--------
    rs1385036101,2
    --61026017(+) TTCCAC/TCCTCA 1 -- ut310--------
    rs112306481,2
    C,F,H--61026130(+) TCTCCC/TGGACA 1 -- ut31 ese310Minor allele frequency- T:0.01NS EA NA EU 2271
    rs1831147941,2
    C--61026131(+) CTCCCA/GGACAC 1 -- ut310--------
    rs1432053771,2
    C,F--61026169(+) CCCCCC/TGAGAA 2 Q R mis12Minor allele frequency- T:0.00NA EU 5237

    HapMap Linkage Disequilibrium report for VWCE (61025758 - 61062896 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for VWCE
         8 CNVs: 4748 65970 30557 85813 31826 3854 85814 34999

    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

    VWCE for disorders           About GeneDecksing

    OMIM gene information: 611115    OMIM disorders: --

    5 diseases for VWCE:    About MalaCards
    hepatitis b    gastric cancer    hepatitis    hypoxia
    carcinoma


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

    1. Enhanced cell survival of Hep3B cells by the hepatitis B x antigen effector, URG11, is associated with upregulation of beta-catenin. (PubMed id 16496348)1, 2 Lian Z....Feitelson M.A. (2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Upregulated expression of a unique gene by hepatitis B x antigen promotes hepatocellular growth and tumorigenesis. (PubMed id 12869306)1, 3 Lian Z....Feitelson M.A. (2003)
    4. URG11 promotes gastric cancer growth and invasion by activation of beta-catenin signalling pathway. (PubMed id 19413886)1 Du R....Fan D. (2010)
    5. URG11 mediates hypoxia-induced epithelial-to-mesenchy mal transition by modulation of E-cadherin and beta-catenin. (PubMed id 19900406)1 Du R....Fan D. (2010)
    6. 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)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1 Adams M.D....White O. (1995)

    (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: 220001 HGNC: 26487 AceView: FLJ32009 Ensembl:ENSG00000167992 euGenes: HUgn220001
    ECgene: VWCE H-InvDB: VWCE

    (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 VWCE 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 VWCE gene:
    Search GeneIP for patents involving VWCE

    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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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