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CNTNAP3B Gene

protein-coding   GIFtS: 37
GCID: GC09P043624

Contactin Associated Protein-Like 3B

  Search for CNTNAP3B
at  

(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
Contactin Associated Protein-Like 3B1 2
Cell Recognition Molecule Caspr3b2 3
Contactin-Associated Protein-Like 3B2
CASPR3B3

External Ids:    HGNC: 320351   Entrez Gene: 7285772   Ensembl: ENSG000001545297   UniProtKB: Q96NU03   

Export aliases for CNTNAP3B gene to outside databases

Previous GC identifer: GC09M040099


(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 CNTNAP3B Gene:
CNTNAP3B (contactin associated protein-like 3B) is a protein-coding gene. An important paralog of this gene is CNTNAP1.


(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_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CNTNAP3B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CNTNAP3B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNTNAP3B


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

Entrez Gene cytogenetic band: 9p11.2   Ensembl cytogenetic band:  9p11.2   HGNC cytogenetic band: 9p12

CNTNAP3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNTNAP3B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P043624:  view genomic region     (about GC identifiers)

Start:
43,684,885 bp from pter      End:
43,924,049 bp from pter
Size:
239,165 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CNT3B_HUMAN, Q96NU0 (See protein sequence)
Recommended Name: Contactin-associated protein-like 3B precursor  
Size: 1288 amino acids; 140468 Da
Miscellaneous: The gene encoding CNTNAP3B is the result of a pericentromeric duplication of the genomic region
encoding CNTNAP3 on chromosome 9
Sequence caution: Sequence=CAI12626.1; Type=Erroneous gene model prediction; Sequence=CAI16324.1; Type=Erroneous
gene model prediction; Sequence=CAI95046.1; Type=Erroneous gene model prediction; Sequence=CAI95048.1;
Type=Erroneous gene model prediction; Sequence=CAI95321.1; Type=Erroneous gene model prediction;
Secondary accessions: B1B0V7 B1B0V8 B1B0V9 B1B0W0 B1B0X8 B1B162 Q4VXF0 Q9H7W3
Alternative splicing: 4 isoforms:  Q96NU0-1   Q96NU0-2   Q96NU0-3   Q96NU0-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNTNAP3B: NX_Q96NU0

Explore proteomics data for CNTNAP3B at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn359, Asn706
  • Modification sites at PhosphoSitePlus

  • See CNTNAP3B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001188309.2  
    ENSEMBL proteins: 
     ENSP00000366787   ENSP00000276974   ENSP00000432883  

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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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    Selected InterPro protein domains (see all 9):
     IPR000742 EG-like_dom
     IPR028873 CASPR3
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR014716 Fibrinogen_a/b/g_C_1

    Graphical View of Domain Structure for InterPro Entry Q96NU0

    ProtoNet protein and cluster: Q96NU0

    2 Blocks protein domains:
    IPB000421 Coagulation factor 5/8 type C domain (FA58C)
    IPB001791 Laminin G


    UniProtKB/Swiss-Prot: CNT3B_HUMAN, Q96NU0
    Similarity: Belongs to the neurexin family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 F5/8 type C domain
    Similarity: Contains 1 fibrinogen C-terminal domain
    Similarity: Contains 4 laminin G-like domains


    Find genes that share domains with CNTNAP3B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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 CNTNAP3B           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNTNAP3B
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    hsa-mir-335-5p (MIRT017383)

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    hsa-miR-3671 hsa-miR-607 hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-4282 hsa-miR-450b-5p hsa-miR-507
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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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    Subcellular locations from UniProtKB/Swiss-Prot
    CNT3B_HUMAN, Q96NU0: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CNTNAP3B           About GenesLikeMe


    (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 CNTNAP3B
    Interactions:

        Search GeneGlobe Interaction Network for CNTNAP3B

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--

    Find genes that share ontologies with CNTNAP3B           About GenesLikeMe



    (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 CNTNAP3B (CNT3B)



    (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 CNTNAP3B gene: 
    NM_001201380.2  

    Unigene Cluster for CNTNAP3B:

    Contactin associated protein-like 3B
    Hs.521495  [show with all ESTs]
    Unigene Representative Sequence: NM_001201380
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377564(uc004acz.2 uc004ada.2 uc004adb.3) ENST00000276974
    ENST00000341990 ENST00000479351 ENST00000377561 ENST00000491438 ENST00000489789
    ENST00000476961 ENST00000480466 ENST00000484254 ENST00000467854
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate CNTNAP3B:
    hsa-miR-3671 hsa-miR-607 hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-4282 hsa-miR-450b-5p hsa-miR-507
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AK054645.1 BX538190.1 

    13 DOTS entries:

    DT.410061  DT.101979763  DT.121169683  DT.121183169  DT.40302131  DT.121152811  DT.121169685  DT.121169690 
    DT.100780858  DT.121154825  DT.121157133  DT.121169679  DT.95262953 

    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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    CNTNAP3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACCACCAT
    CNTNAP3B Expression
    About this image


    CNTNAP3B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    CNTNAP3B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNTNAP3B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521495
        Custom PCR Arrays for CNTNAP3B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTNAP3B

    (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 chordates.

    Orthologs for CNTNAP3B gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    61(a)
    1 → many
    Z(42697105-42766343)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    61(a)
    1 → many
    2(38260894-38592818)
    zebrafish
    (Danio rerio)
    Actinopterygii CR382299.16
    Uncharacterized protein
    38(a)
    many ↔ many
    2(51134319-51138378) ENSDARG00000075359
            Species with no ortholog for CNTNAP3B

    ENSEMBL Gene Tree for CNTNAP3B (if available)
    TreeFam Gene Tree for CNTNAP3B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNTNAP3B gene
    CNTNAP12  ENSG000002360292  NRXN32  CNTNAP52  NRXN22  CNTNAP32  CNTNAP42  CNTNAP22  
    NRXN12  
    7 SIMAP similar genes for CNTNAP3B using alignment to 2 protein entries:     CNT3B_HUMAN (see all proteins):
    CNTNAP3    CASPR4    CNTNAP4    CNTNAP2    CNTNAP5    DKFZp686I15204
    CNTNAP1

    Find genes that share paralogs with CNTNAP3B           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for CNTNAP3B
    PGOHUM00000236048 PGOHUM00000236055 PGOHUM00000236473


    (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 CNTNAP3B (see all 1832)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1875726231,2
    --43682923(+) TCATTG/TCCAGC 1 -- us2k10--------
    rs1929843811,2
    --43682939(+) CACCAC/TGGCAA 1 -- us2k10--------
    rs1468468461,2
    --43683039(+) TCAAGC/TTCCCT 1 -- us2k10--------
    rs1392621551,2
    --43683061(+) TTAAGC/TAGAAT 1 -- us2k10--------
    rs1829037241,2
    --43683240(+) AAAATA/GTATAT 1 -- us2k10--------
    rs603445331,2
    C--43683316(+) CACTAG/CGCTAG 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1881551891,2
    --43683348(+) CCATTA/TTTTTT 1 -- us2k10--------
    rs1921624771,2
    --43683374(+) CCACCA/GTAGAA 1 -- us2k10--------
    rs1842004321,2
    --43683479(+) AAGCTA/GGAGTG 1 -- us2k10--------
    rs800159521,2
    C--43683718(+) GCACCC/TGGCCA 1 -- us2k11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for CNTNAP3B (43684885 - 43924049 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CNTNAP3B (see all 54):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436621CNV Deletion17901297
    esv2738445CNV Deletion23290073
    dgv1342e199CNV Deletion23128226
    esv2659924CNV Deletion23128226
    esv2677102CNV Deletion23128226
    dgv1343e199CNV Deletion23128226
    esv2676631CNV Deletion23128226
    nsv436091CNV Insertion17901297
    nsv893183CNV Loss21882294
    nsv893182CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CNTNAP3B

    (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 CNTNAP3B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CNTNAP3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. (PubMed id 15820314)1, 2, 3 Boyadjiev S.A.... Stetten G. (Genomics 2005)
    2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (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: 728577 HGNC: 32035 Ensembl:ENSG00000154529 euGenes: HUgn728577 ECgene: CNTNAP3B
    H-InvDB: CNTNAP3B

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CNTNAP3B 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 CNTNAP3B gene:
    Search GeneIP for patents involving CNTNAP3B

    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, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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