KEGG   VARIANT: 7516v1
Entry
7516v1                      Variant                                
Name
XRCC2 mutation
Type
Loss of function
Gene
XRCC2  X-ray repair cross complementing 2 [KO:K10879]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600375
Network
nt06506  Double-strand break repair
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
H00627  Premature ovarian failure
Reference
PMID:7711722
  Authors
Thacker J, Tambini CE, Simpson PJ, Tsui LC, Scherer SW
  Title
Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents.
  Journal
Hum Mol Genet 4:113-20 (1995)
DOI:10.1093/hmg/4.1.113
Reference
  Authors
Zhang YX, Li HY, He WB, Tu C, Du J, Li W, Lu GX, Lin G, Yang Y, Tan YQ
  Title
XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans.
  Journal
Clin Genet 95:442-443 (2019)
DOI:10.1111/cge.13475
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