VARIANT: 126328v1
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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
PMID:
18306244
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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