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

FANCB Gene

protein-coding   GIFtS: 57
GCID: GC0XM014861

Fanconi anemia, complementation group B

 Explore 11 diseases affiliated with
FANCB via our new
 Human Malady Compendium 
Biological research products
for FANCB
    

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

Aliases
Fanconi Anemia, Complementation Group B1 2     FA22
FAAP951 2 3 5     FACB2
FAB1 2     Fanconi Anemia Group B Protein2
Fanconi Anemia-Associated Polypeptide Of 95 KDa2 3     Protein FACB3
FLJ340641 5     EC 2.8.18
FAAP902 5     EC 3.6.3.148

External Ids:    HGNC: 35831   Entrez Gene: 21872   Ensembl: ENSG000001815447   OMIM: 3005155   UniProtKB: Q8NB913   

Export aliases for FANCB gene to outside databases

Previous GC identifers: GC00U990101 GC0XM014622 GC0XU900615 GC0XM014771 GC0XM012620


(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 FANCB:
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2),
FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The
previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder
characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage,
and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity;
they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for
complementation group B. Alternative splicing results in two transcript variants encoding the same protein. (provided
by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FANCB_HUMAN, Q8NB91
Function: DNA repair protein required for FANCD2 ubiquitination

Gene Wiki entry for FANCB


(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_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FANCB gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFANCB promoter sequence
   Search SABiosciences Chromatin IP Primers for FANCB

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


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

Entrez Gene cytogenetic band: Xp22.2   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.2

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM014861:  view genomic region     (about GC identifiers)

Start:
14,861,529 bp from pter      End:
14,891,191 bp from pter
Size:
29,663 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: FANCB_HUMAN, Q8NB91 (See protein sequence)
Recommended Name: Fanconi anemia group B protein  
Size: 859 amino acids; 97726 Da
Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and
FANCM. The complex is not found in FA patients
Subcellular location: Nucleus
Sequence caution: Sequence=AAH43596.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A
sequence; Sequence=AAH55411.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Secondary accessions: B2RMZ4 Q7Z2U2 Q86XG1

Explore the universe of human proteins at neXtProt for FANCB: NX_Q8NB91

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NB91

  • 2 DME Specific Peptides for FANCB (Q8NB91)
     LETGLKV  NVFEYFL 

    FANCB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018123.1  NP_689846.1  

    ENSEMBL proteins: 
     ENSP00000326819   ENSP00000397849   ENSP00000381378  
    Reactome Protein details: Q8NB91
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    Uscn Proteins for FANCB

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0043240Fanconi anaemia nuclear complex IDA--


    FANCB 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

    ProtoNet protein and cluster: Q8NB91


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FANCB_HUMAN, Q8NB91
    Function: DNA repair protein required for FANCD2 ubiquitination

    Enzyme Numbers (IUBMB): EC 2.8.12 EC 3.6.3.142

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    1 GenomeRNAi human phenotype for FANCB:
     Elongated cells with protrusio 


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Meiosis
    Meiosis1.00
    2Fanconi Anemia pathway
    Fanconi Anemia pathway1.00
    3Nucleotide Excision Repair
    DNA Repair0.46

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for FANCB
        Meiosis


    2        Reactome Pathways for FANCB
        DNA Repair
    Fanconi Anemia pathway



    FANCB for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FANCB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/39 Interacting proteins for FANCB (Q8NB912, 3 ENSP000003268194) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCAO153602, 3, ENSP000003739524MINT-4789189 MINT-4789226 I2D: score=1 STRING: ENSP00000373952
    FANCGO152872, 3, ENSP000003679104MINT-4789189 MINT-4789226 I2D: score=1 STRING: ENSP00000367910
    C17orf70Q0VG062, 3, ENSP000003332834MINT-4789189 MINT-4789279 MINT-4789226 MINT-4789371 MINT-4789347 I2D: score=2 STRING: ENSP00000333283
    FANCLQ9NW382, 3, ENSP000003850214MINT-4789189 MINT-4789279 MINT-4789226 MINT-4789371 I2D: score=1 STRING: ENSP00000385021
    FANCMQ8IYD82, 3, ENSP000002674304MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000267430
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--


    FANCB 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 FANCB
    Search CenterWatch for drugs/clinical trials and news about FANCB 

    (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,
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    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 FANCB gene (2 alternative transcripts): 
    NM_001018113.1  NM_152633.2  

    Unigene Cluster for FANCB:

    Fanconi anemia, complementation group B
    Hs.554740  [show with all ESTs]
    Unigene Representative Sequence: NM_001018113
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324138(uc004cwh.1) ENST00000452869 ENST00000489126 ENST00000398334(uc004cwg.1)


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    Additional cDNA sequence: 

    AK091383.1 BC043596.1 BC055411.1 BC136558.1 BC136560.1 HQ234315.1 

    4 DOTS entries:

    DT.75169374  DT.423295  DT.97805281  DT.92060060 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FANCB    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                                        
    SP2:              -                                                         
    SP3:                                                                        
    SP4:              -     -                                                   
    SP5:                                                                        


    ECgene alternative splicing isoforms for FANCB

    (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

    FANCB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAGCAATTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    FANCB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisTestis CordXY Germ CellsGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.554740
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    In Situ
    Assay Products:
     

     
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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 chordates.

    Orthologs for FANCB gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fancb1 , 5 Fanconi anemia, complementation group B1, 5 70.11(n)1
    50.48(a)1
      X (76.75 cM)5
    2372111  NM_001146081.11  NP_001139553.11 
     1649805925 
    chicken
    (Gallus gallus)
    Aves FANCB1 Fanconi anemia, complementation group B 58.18(n)
    43.75(a)
      418628  NM_001199100.1  NP_001186029.1 
    lizard
    (Anolis carolinensis)
    Reptilia FANCB6
    --
    41(a)
    1 ↔ 1
    3(121147915-121159427)
    zebrafish
    (Danio rerio)
    Actinopterygii fancb1 Fanconi anemia, complementation group B 43.33(n)
    26.67(a)
      692126  NM_001040636.1  NP_001035726.1 


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

    10/372 NCBI SNPs in FANCB are shown (see all 372    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs59358131,2
    C,H--14861130(+) ACTTGT/GGGATC 2 -- ds50015Minor allele frequency- G:0.00NS EA NA 382
    rs287776931,2
    C,--14861285(+) TAAGAT/CGGGAT 2 -- ds50015Minor allele frequency- C:0.12WA NA 8
    rs1859339851,2
    --14861326(+) GCTGGA/TTAATT 2 -- ds50010--------
    rs557252711,2
    --14861393(+) TCCTCG/TATCCA 2 -- ds50010--------
    rs21064121,2
    C,F,A,H,--14861404(+) CTAGAC/TGCCCA 2 -- ds500117Minor allele frequency- T:0.49NA EA NS WA CSA 686
    rs1831622591,2
    --14861505(+) GAGGAA/GAGGGA 2 -- ds50010--------
    rs1479734781,2
    --14861591(+) GCCTCA/GGTGTT 2 -- ut310--------
    rs1434342251,2
    C,--14861623(+) TAGCAA/CGTAGA 2 -- ut310--------
    rs1876113081,2
    C,--14861656(+) AAAACA/GTATTT 2 -- ut310--------
    rs23757261,2
    C,F,A,H,--14861675(+) GATCAA/GATTGA 2 -- ut318Minor allele frequency- G:0.06NS EA NA 1196

    HapMap Linkage Disequilibrium report for FANCB (14861529 - 14891191 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FANCB
         1 CNV: 33163
    Human Gene Mutation Database (HGMD): FANCB

    Locus Specific Mutation Databases (LSDB): FANCB

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FANCB for disorders           About GeneDecksing

    OMIM gene information: 300515   
    OMIM disorders: 300514  
    UniProtKB/Swiss-Prot: FANCB_HUMAN, Q8NB91
  • Defects in FANCB are the cause of Fanconi anemia complementation group B (FANCB) [MIM:300514]. It is a
  • disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated
    with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of
    malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal
    instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of
    VACTERL syndrome with hydrocephalus

    11 diseases for FANCB:    About MalaCards
    fanconi's anemia    fanconi anemia, complementation group b    anemia    fanconi anemia, complementation group m
    nijmegen breakage syndrome    breast cancer susceptibility    squamous cell carcinoma    leukopenia
    hydrocephalus    breast cancer    carcinoma

    1 disease from the University of Copenhagen DISEASES database for FANCB:
    Fanconi's anemia

    4 Novoseek disease relationships for FANCB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 89 2 16116424 (1), 19861535 (1)
    anemia 34 1 12001267 (1)
    leukemia 28.9 3 16803569 (3)
    cancer 20.3 1 19861535 (1)

    GeneTests: FANCB
    Fanconi Anemia

    Human Genome Epidemiology (HuGE) Navigator: FANCB (621 documents)

    Export disorders for FANCB 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 FANCB gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with FANCB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. X-linked inheritance of Fanconi anemia complementation group B. (PubMed id 15502827)1, 2, 3 Meetei A.R....Joenje H. (2004)
    2. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. (PubMed id 16679491)1, 2 Holden S.T.... Woods C.G. (2006)
    3. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422)1, 2 Meetei A.R....Wang W. (2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. Evidence for at least eight Fanconi anemia genes. (PubMed id 9382107)1, 3 Joenje H....Arwert F. (1997)
    7. New advances in the DNA damage response network of Fanconi anemia and BRCA proteins. FAAP95 replaces BRCA2 as the true FANCB protein. (PubMed id 15611632)1, 9 Fei P....Wang W. (2005)
    8. Inactivation of the tumor suppressor genes causing th e hereditary syndromes predisposing to head and neck cancer via promoter hyperm ethylation in sporadic head and neck cancers. (PubMed id 20332657)1, 9 Smith I.M....Califano J.A. (2010)
    9. Evidence for subcomplexes in the Fanconi anemia pathway. (PubMed id 16720839)1, 9 Medhurst A.L....de Winter J.P. (2006)
    10. A ubiquitin-binding protein, FAAP20, links RNF8-mediat ed ubiquitination to the Fanconi anemia DNA repair network. (PubMed id 22705371)1 Yan Z....Wang W. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2187 HGNC: 3583 Ensembl:ENSG00000181544 euGenes: HUgn2187 ECgene: FANCB
    H-InvDB: FANCB

    (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 FANCB Pharmacogenomics, SNPs, Pathways
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpb.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCB

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