KEGG   VARIANT: 2188v1
Entry
2188v1                      Variant                                
Name
FANCF mutation
Type
Loss of function
Gene
FANCF  FA complementation group F [KO:K10893]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613897
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
PMID:27714961
  Authors
Tryon R, Zierhut H, MacMillan ML, Wagner JE
  Title
Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.
  Journal
Am J Med Genet A 173:260-263 (2017)
DOI:10.1002/ajmg.a.37998
LinkDB

DBGET integrated database retrieval system