KEGG   VARIANT: 55159v1
Entry
55159v1                      Variant                               
Name
RFWD3 mutation
Type
Loss of function
Gene
RFWD3  ring finger and WD repeat domain 3 [KO:K15691]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 614151
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
PMID:28691929
  Authors
Knies K, Inano S, Ramirez MJ, Ishiai M, Surralles J, Takata M, Schindler D
  Title
Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
  Journal
J Clin Invest 127:3013-3027 (2017)
DOI:10.1172/JCI92069
LinkDB

DBGET integrated database retrieval system