KEGG   VARIANT: 2189v1
Entry
2189v1                      Variant                                
Name
FANCG mutation
Type
Loss of function
Gene
FANCG  FA complementation group G [KO:K10894]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602956
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
PMID:11093276
  Authors
Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Grasl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M
  Title
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
  Journal
Eur J Hum Genet 8:861-8 (2000)
DOI:10.1038/sj.ejhg.5200552
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