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

C3orf18 Gene

protein-coding   GIFtS: 39
GCID: GC03M050571

chromosome 3 open reading frame 18

 Explore 1 disease affiliated with
C3orf18 via our new
 Human Malady Compendium 
Biological research products
for C3orf18
    

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

Aliases
Chromosome 3 Open Reading Frame 181 2
G201 2
Uncharacterized Protein C3orf182
Protein G203

External Ids:    HGNC: 248371   Entrez Gene: 511612   Ensembl: ENSG000000885437   UniProtKB: Q9UK003   

Export aliases for C3orf18 gene to outside databases


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

  --

(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_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C3orf18 gene promoter:
         NF-1   AML1a   FOXD1   AP-4   LCR-F1   PPAR-alpha   POU2F1   COMP1   POU2F1a   Zic3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C3orf18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C3orf18


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

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p21.2   HGNC cytogenetic band: 3p21.3

C3orf18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3orf18 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M050571:  view genomic region     (about GC identifiers)

Start:
50,595,456 bp from pter      End:
50,608,458 bp from pter
Size:
13,003 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: CC018_HUMAN, Q9UK00 (See protein sequence)
Recommended Name: Uncharacterized protein C3orf18  
Size: 162 amino acids; 17468 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: C9JNP0
Alternative splicing: 2 isoforms:  Q9UK00-1   Q9UK00-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C3orf18: NX_Q9UK00

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UK00

  • C3orf18 Protein expression data from MOPED and PaxDb:    About this image 
    C3orf18 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001165211.1  NP_001165212.1  NP_001165214.2  NP_057294.2  

    ENSEMBL proteins: 
     ENSP00000387606   ENSP00000349732   ENSP00000404913   ENSP00000414124   ENSP00000400599  
     ENSP00000399129  

    Human Recombinant Protein Products for C3orf18: 
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    Uscn Proteins for C3orf18

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    C3orf18 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for C3orf18


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

    ProtoNet protein and cluster: Q9UK00


    (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

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C3orf18 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidC3orf18 3' UTR sequence
    Inhib. RNA
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    Sirion Biotech Customized inducible overexpressing cell line services for C3orf18

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C3orf18


    (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 C3orf18

    (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 C3orf18
    Search CenterWatch for drugs/clinical trials and news about C3orf18 / CC018 

    (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 C3orf18 gene (4 alternative transcripts): 
    NM_001171740.2  NM_001171741.2  NM_001171743.2  NM_016210.4  

    Unigene Cluster for C3orf18:

    Chromosome 3 open reading frame 18
    Hs.517860  [show with all ESTs]
    Unigene Representative Sequence: NM_016210
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426034 ENST00000357203(uc010hlo.3 uc003dar.3 uc003das.3 uc011bdr.2 uc010hlp.3)
    ENST00000449241(uc003dat.3) ENST00000441239 ENST00000430746 ENST00000485902
    ENST00000486175 ENST00000464080 ENST00000422619 ENST00000484982 ENST00000491269


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C3orf18
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate C3orf18 (see all 24):
    hsa-miR-30c hsa-miR-4291 hsa-miR-520e hsa-miR-302d hsa-miR-642a hsa-miR-30d hsa-miR-302e hsa-miR-520a-3p
    SwitchGear 3'UTR luciferase reporter plasmidC3orf18 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C3orf18 (see all 4)
    OriGene shRNA RFP: C3orf18
    OriGene siRNA: C3orf18
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C3orf18
    Sirion Biotech Custom design and validation of potent shRNA sequences against C3orf18 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C3orf18 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C3orf18 (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C3orf18 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C3orf18
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C3orf18

    Additional cDNA sequence: 

    AF188706.1 AK124438.1 AK308074.1 AK309486.1 AK311093.1 AK313128.1 AL833938.1 BC034766.1 

    4 DOTS entries:

    DT.95264848  DT.314292  DT.100748424  DT.120896460 

    24/97 AceView cDNA sequences (see all 97):

    AI468295 AI632398 BU621021 BM508252 AF188706 AI573215 AI800060 BQ182296 
    BM702664 BU634375 BE550686 AI572834 AK124438 T31218 NM_016210 BI819497 
    BC034766 BX111687 AL833938 BQ959810 AI571325 BM974542 BM821057 BU783139 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for C3orf18 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d
    SP1:        -     -     -     -     -     -                       -                                       
    SP2:                                      -                       -                                       
    SP3:                                            -     -     -     -                                       
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for C3orf18

    (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

    C3orf18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGAAGGTTC
    C3orf18 Expression
    About this image
    See C3orf18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C3orf18

    SOURCE GeneReport for Unigene cluster: Hs.517860
        SABiosciences Custom PCR Arrays for C3orf18

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C3orf18

    (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 C3orf18 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 6430571L13Rik1 , 5 RIKEN cDNA 6430571L13 gene1, 5 85.19(n)1
    83.95(a)1
      9 (58.00 cM)5
    2355991  NM_175486.31  NP_780695.11 
     1073406025 
    chicken
    (Gallus gallus)
    Aves C12H3orf181 chromosome 12 open reading frame, human C3orf18 70.09(n)
    69.23(a)
      415914  XM_414260.3  XP_414260.1 
    lizard
    (Anolis carolinensis)
    Reptilia C3orf186
    --
    63(a)
    1 ↔ 1
    2(151382986-151388657)
    zebrafish
    (Danio rerio)
    Actinopterygii CU207276.36
    --
    65(a)
    1 ↔ 1
    6(53369595-53374547)
    honey bee
    (Apis mellifera)
    Insecta --
    --
    24(a)
    1 ↔ 1
    Group15.16(5919-6837)


    ENSEMBL Gene Tree for C3orf18 (if available)
    TreeFam Gene Tree for C3orf18 (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

    10/226 NCBI SNPs in C3orf18 are shown (see all 226    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22695061,2
    C--50595141(-) ACCTCG/AGGACC 4 -- int14Minor allele frequency- A:0.11WA NA EA 360
    rs1154692231,2
    C,F--50595234(+) CCCTAG/CGGGGT 4 -- int11Minor allele frequency- C:0.04WA 118
    rs130830041,2
    C,F--50595281(+) GAAGCC/TCCAGG 4 -- int15Minor allele frequency- T:0.13NA EA 246
    rs1126694111,2
    --50595388(+) GCCCCC/GCACAG 4 -- int12Minor allele frequency- G:0.05CSA WA 120
    rs590657231,2
    C--50595399(+) CCCCTC/TACCCA 4 -- int12Minor allele frequency- T:0.25WA 120
    rs1475528151,2
    --50595476(+) TCATTA/CCATCT 4 -- ut310--------
    rs284965151,2
    C--50595480(+) TACATC/GTTTAA 4 -- ut312Minor allele frequency- G:0.06CSA WA 120
    rs4237631,2
    H--50595673(-) ATGCAG/CACCTT 4 -- ut31 ese35Minor allele frequency- C:0.00MN NS EA 590
    rs1836081861,2
    --50595891(+) GGGACC/TCATCT 4 -- ut310--------
    rs1403045951,2
    --50596140(+) GCCCAA/GTGAAA 4 -- ut310--------

    HapMap Linkage Disequilibrium report for C3orf18 (50595456 - 50608458 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C3orf18: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C3orf18
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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

    C3orf18 for disorders           About GeneDecksing

    1 disease for C3orf18:    About MalaCards
    saethre-chotzen syndrome

    Human Genome Epidemiology (HuGE) Navigator: C3orf18 (1 document)

    Export disorders for C3orf18 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 C3orf18 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C3orf18)
        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. 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)
    3. Host determinants of HIV-1 control in African America ns. (PubMed id 20205591)1 Pelak K....Weintrob A.C. (2010)
    4. 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)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 51161 HGNC: 24837 AceView: LOC51161 Ensembl:ENSG00000088543 euGenes: HUgn51161
    ECgene: C3orf18 H-InvDB: C3orf18

    (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 C3orf18 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 C3orf18 gene:
    Search GeneIP for patents involving C3orf18

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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     EMD Millipore Custom Antibody & Bulk Services
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     Browse OriGene Antibodies   OriGene shRNA RFP for C3orf18  
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     Search for Antibodies & Assays

     Regulatory tfbs in C3orf18 promoter
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
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     C3orf18 Proteins, Antibodies, CLIAs, and ELISAs
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    Sirion Biotech Customized:
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    GeneCards Homepage - Last full update: 18 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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