KEGG   VARIANT: 126328v1
Entry
126328v1                      Variant                              
Name
NDUFA11 mutation
Gene
NDUFA11  NADH:ubiquinone oxidoreductase subunit A11 [KO:K03956]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612638
Network
nt06529  Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Reference
  Authors
Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O
  Title
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
  Journal
Ann Neurol 63:405-8 (2008)
DOI:10.1002/ana.21332
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