KEGG   VARIANT: 84515v1
Entry
84515v1                      Variant                               
Name
MCM8 mutation
Type
Loss of function
Gene
MCM8  minichromosome maintenance 8 homologous recombination repair factor [KO:K10737]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608187
Network
nt06508  Interstrand crosslink repair
Disease
H00627  Premature ovarian failure
Reference
PMID:25437880
  Authors
AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A
  Title
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.
  Journal
J Clin Invest 125:258-62 (2015)
DOI:10.1172/JCI78473
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