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Q50347029-8D734C8E-FDF4-4CC6-BB34-C570C66D48B4
Q50347029-8D734C8E-FDF4-4CC6-BB34-C570C66D48B4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50347029-8D734C8E-FDF4-4CC6-BB34-C570C66D48B4
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
P2860
Q50347029-8D734C8E-FDF4-4CC6-BB34-C570C66D48B4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50347029-8D734C8E-FDF4-4CC6-BB34-C570C66D48B4
rank
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type
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Statement
wasDerivedFrom
c2990883fdb653f79f524afc410d01241e88760b
P2860
The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine.