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Q50347029-3C7DC5EB-CE5F-4BFE-BDF3-AAF5A551195B
Q50347029-3C7DC5EB-CE5F-4BFE-BDF3-AAF5A551195B
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Statement
http://www.wikidata.org/entity/statement/Q50347029-3C7DC5EB-CE5F-4BFE-BDF3-AAF5A551195B
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
P2860
Q50347029-3C7DC5EB-CE5F-4BFE-BDF3-AAF5A551195B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50347029-3C7DC5EB-CE5F-4BFE-BDF3-AAF5A551195B
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Statement
wasDerivedFrom
c2990883fdb653f79f524afc410d01241e88760b
P2860
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria