KEGG   VARIANT: 4174v1
Entry
4174v1                      Variant                                
Name
MCM5 mutation
Type
Loss of function
Gene
MCM5  minichromosome maintenance complex component 5 [KO:K02209]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602696
Network
nt06506  Double-strand break repair
nt06509  DNA replication
Disease
H01889  Meier-Gorlin syndrome
Reference
PMID:28198391
  Authors
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O
  Title
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
  Journal
Eur J Hum Genet 25:646-650 (2017)
DOI:10.1038/ejhg.2017.5
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