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Q50347029-49179F0E-1195-4597-83BF-E881AF505189
Q50347029-49179F0E-1195-4597-83BF-E881AF505189
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Statement
http://www.wikidata.org/entity/statement/Q50347029-49179F0E-1195-4597-83BF-E881AF505189
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
P2860
Q50347029-49179F0E-1195-4597-83BF-E881AF505189
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50347029-49179F0E-1195-4597-83BF-E881AF505189
rank
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wasDerivedFrom
c2990883fdb653f79f524afc410d01241e88760b
P2860
Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia.