KEGG   VARIANT: 4171v1
Entry
4171v1                      Variant                                
Name
MCM2 mutation
Type
Loss of function
Gene
MCM2  minichromosome maintenance complex component 2 [KO:K02540]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 116945
Network
nt06506  Double-strand break repair
nt06509  DNA replication
Disease
H00604  Deafness, autosomal dominant
Reference
PMID:26196677
  Authors
Gao J, Wang Q, Dong C, Chen S, Qi Y, Liu Y
  Title
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.
  Journal
PLoS One 10:e0133522 (2015)
DOI:10.1371/journal.pone.0133522
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