KEGG   VARIANT: 4173v1
Entry
4173v1                      Variant                                
Name
MCM4 mutation
Type
Loss of function
Gene
MCM4  minichromosome maintenance complex component 4 [KO:K02212]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602638
Network
nt06506  Double-strand break repair
nt06509  DNA replication
Disease
H00094  Immunodeficiency associated with DNA repair defects
Reference
  Authors
Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alcais A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova JL, Jouanguy E
  Title
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.
  Journal
J Clin Invest 122:821-32 (2012)
DOI:10.1172/JCI61014
LinkDB

DBGET integrated database retrieval system