KEGG   VARIANT: 1327v1
Entry
1327v1                      Variant                                
Name
COX4I1 mutation
Gene
COX4I1  cytochrome c oxidase subunit 4I1 [KO:K02263]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 123864
Network
nt06529  Thermogenesis
Disease
H01368  Cytochrome c oxidase (COX) deficiency
Reference
PMID:28766551
  Authors
Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, Elpeleg O, Saada A
  Title
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.
  Journal
Eur J Hum Genet 25:1142-1146 (2017)
DOI:10.1038/ejhg.2017.112
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