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pombase / curation

PomBase curation
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disease associations #1980

Closed ValWood closed 6 years ago

ValWood commented 6 years ago

ATP Synthase Diseases of Mitochondrial Genetic Origin. Abstract Devastating human neuromuscular disorders have been associated to defects in the ATP synthase. This enzyme is found in the inner mitochondrial membrane …………..clinical syndromes induced by 58 different mutations found in the mitochondrial genes encoding membrane subunits 8 and a of ATP synthase………nd evaluate their functional consequences with respect to recently described cryo-EM structures. PMID: 29670542 disease associated ATP synthase

human MT-ATP8 and MT-ATP6

ValWood commented 6 years ago

PNKP neurological disorders

ValWood commented 6 years ago

done