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SOWAHC Gene

protein-coding   GIFtS: 38
GCID: GC02P110372

Sosondowah Ankyrin Repeat Domain Family Member C

(Previous name: ankyrin repeat domain 57)
(Previous symbols: C2orf26, ANKRD57)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sosondowah Ankyrin Repeat Domain Family Member C1 2     Ankyrin Repeat Domain-Containing Protein 572 3
ANKRD571 2 3     Protein Sosondowah Homolog C2 3
C2orf261 2 3     Ankyrin Repeat Domain-Containing Protein SOWAHC2
Ankyrin Repeat Domain 571 2     

External Ids:    HGNC: 261491   Entrez Gene: 651242   Ensembl: ENSG000001981427   UniProtKB: Q53LP33   

Export aliases for SOWAHC gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SOWAHC Gene:
SOWAHC (sosondowah ankyrin repeat domain family member C) is a protein-coding gene. An important paralog of this gene is SOWAHB.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SOWAHC
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOWAHC promoter sequence
   Search Chromatin IP Primers for SOWAHC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SOWAHC


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

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q13

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P110372:  view genomic region     (about GC identifiers)

Start:
110,371,911 bp from pter      End:
110,376,564 bp from pter
Size:
4,654 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SWAHC_HUMAN, Q53LP3 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein SOWAHC  
Size: 525 amino acids; 55672 Da
Sequence caution: Sequence=BAB15161.1; Type=Frameshift; Positions=311;
Secondary accessions: Q8NE15 Q9H6U1

Explore the universe of human proteins at neXtProt for SOWAHC: NX_Q53LP3

Explore proteomics data for SOWAHC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SOWAHC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_075392.2  
    ENSEMBL proteins: 
     ENSP00000365830  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q53LP3

    ProtoNet protein and cluster: Q53LP3

    UniProtKB/Swiss-Prot: SWAHC_HUMAN, Q53LP3
    Similarity: Belongs to the SOWAH family
    Similarity: Contains 2 ANK repeats


    Find genes that share domains with SOWAHC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SOWAHC           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SOWAHC

    miRNA
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    miRTarBase miRNAs that target SOWAHC:
    hsa-mir-93-5p (MIRT028113), hsa-mir-340-5p (MIRT019614), hsa-mir-103a-3p (MIRT027170), hsa-mir-21-5p (MIRT031000), hsa-mir-192-5p (MIRT026755), hsa-mir-193b-3p (MIRT041450), hsa-mir-29c-3p (MIRT020382), hsa-mir-215-5p (MIRT024532), hsa-mir-26b-5p (MIRT030087), hsa-mir-16-5p (MIRT031992)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SOWAHC
    Interactions:

        Search GeneGlobe Interaction Network for SOWAHC

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for SOWAHC (Q53LP33 ENSP000003658304) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBD1P614573, ENSP000002992994I2D: score=1 STRING: ENSP00000299299
    TCF3P159233I2D: score=1 
    LTV1ENSP000003565484STRING: ENSP00000356548
    RPS3ENSP000002785724STRING: ENSP00000278572
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SOWAHC (SWAHC)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SOWAHC gene: 
    NM_023016.3  

    Unigene Cluster for SOWAHC:

    Sosondowah ankyrin repeat domain family member C
    Hs.355455  [show with all ESTs]
    Unigene Representative Sequence: NM_023016
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000356454(uc002tfb.3)
    miRNA
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    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for SOWAHC
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      QuantiTect SYBR Green Assays in human, mouse, rat SOWAHC
      QuantiFast Probe-based Assays in human, mouse, rat SOWAHC

    Additional mRNA sequence: 

    AK023346.1 AK025523.1 BC036652.1 BC066772.1 

    3 DOTS entries:

    DT.87012556  DT.100678603  DT.95138527 

    Selected AceView cDNA sequences (see all 99):

    AW662149 CN479621 BQ025322 AV716967 BU153173 R84563 AA885692 BX645211 
    BX483394 AW161459 AI589168 BU508918 AI478812 AW161879 AA936548 BM994405 
    CR622761 AI003797 BQ437156 AI675284 BG116259 BF916863 NM_023016 BQ721702 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SOWAHC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SOWAHC Expression
    About this image

    SOWAHC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SOWAHC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.355455
        Custom PCR Arrays for SOWAHC
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOWAHC

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SOWAHC gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sowahc1 , 5 sosondowah ankyrin repeat domain family member C1, 5 77.07(n)1
    74.16(a)1
      10 (29.50 cM)5
    2683011  NM_172939.31  NP_766527.31 
     592219535 
    chicken
    (Gallus gallus)
    Aves SOWAHC6
    sosondowah ankyrin repeat domain family member C
    73(a)
    1 ↔ 1
    1(136196812-136198516)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sowahc1 sosondowah ankyrin repeat domain family member C 65.83(n)
    63.45(a)
      100492838  XM_004911799.1  XP_004911856.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sowahcb1 sosondowah ankyrin repeat domain family Cb 52.89(n)
    47.27(a)
      563244  NM_001080006.1  NP_001073475.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sowah6
    sosondowah
    12(a)
    1 → many
    3L(12530613-12565642)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SOWAHC gene
    SOWAHB2  SOWAHA2  SOWAHD2  

    Find genes that share paralogs with SOWAHC           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for SOWAHC
    PGOHUM00000238999 PGOHUM00000240780 PGOHUM00000262586 PGOHUM00000233738


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SOWAHC (see all 49)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs49538471,2
    C,A--110373805(+) CTGGGA/GAAAGT 1 -- ut315Minor allele frequency- G:0.21WA NA EA 362
    rs49538481,2
    C,F,A--110373849(+) CCTGTA/GCCTCT 1 -- ut31 ese35Minor allele frequency- G:0.20WA NA EA 362
    rs49538491,2
    C,F--110373919(+) ATTGGG/AGGAAC 1 -- ut315Minor allele frequency- A:0.21WA NA EA 362
    rs49538501,2
    C,F,A--110373938(+) TGAATG/TAATGA 1 -- ut319Minor allele frequency- T:0.41WA NA CSA EA 369
    rs1834002091,2
    --110374041(+) TTCAAC/GAGTAA 1 -- ut310--------
    rs1160404861,2
    C,F--110374214(+) GGAATC/ATTCTT 1 -- ut311Minor allele frequency- A:0.06WA 118
    rs67262521,2
    C,F,A,H--110374215(+) GAATCT/CTCTTG 1 -- ut3113Minor allele frequency- C:0.44EA NS NA WA CSA 1027
    rs1440568001,2
    --110374356(+) ATTAAA/GGTACA 1 -- ut310--------
    rs1482135511,2
    --110374357(+) TTAAGG/TTACAC 1 -- ut310--------
    rs1412063491,2
    --110374485(+) CTATTC/TTAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SOWAHC (110371911 - 110376564 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SOWAHC: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SOWAHC
    DNA2.0 Custom Variant and Variant Library Synthesis for SOWAHC

    (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.)
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    (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)
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    PubMed articles for SOWAHC gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with SOWAHC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An ancient genomic regulatory block conserved across bilaterians and its dismantling in tetrapods by retrogene replacement. (PubMed id 22234889)1, 3 Maeso I....Garcia-FernA ndez J. (Genome Res. 2012)
    2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    4. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    10. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (Cell 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 65124 HGNC: 26149 AceView: C2orf26 Ensembl:ENSG00000198142 euGenes: HUgn65124
    ECgene: SOWAHC H-InvDB: SOWAHC

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SOWAHC Pharmacogenomics, SNPs, Pathways

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

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Browse ESI BIO Cell Lines and PureStem Progenitors for SOWAHC
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     antibodies-online antibodies for SOWAHC (15 products)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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