KEGG   VARIANT: 254394v1
Entry
254394v1                      Variant                              
Name
MCM9 mutation
Type
Loss of function
Gene
MCM9  minichromosome maintenance 9 homologous recombination repair factor [KO:K10738]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610098
Network
nt06508  Interstrand crosslink repair
Disease
H00599  Ovarian dysgenesis
Reference
PMID:25480036
  Authors
Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A
  Title
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.
  Journal
Am J Hum Genet 95:754-62 (2014)
DOI:10.1016/j.ajhg.2014.11.002
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