KEGG   VARIANT: 7518v1
Entry
7518v1                      Variant                                
Name
XRCC4 mutation
Type
Loss of function
Gene
XRCC4  X-ray repair cross complementing 4 [KO:K10886]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 194363
Network
nt06506  Double-strand break repair
Disease
H02578  Short stature, microcephaly, and endocrine dysfunction
Reference
  Authors
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS
  Title
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
  Journal
Am J Hum Genet 96:412-24 (2015)
DOI:10.1016/j.ajhg.2015.01.013
LinkDB

DBGET integrated database retrieval system