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Q50347029-11B4E4A5-DB8E-4877-AFA9-9C789B2AC683
Q50347029-11B4E4A5-DB8E-4877-AFA9-9C789B2AC683
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50347029-11B4E4A5-DB8E-4877-AFA9-9C789B2AC683
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
P2860
Q50347029-11B4E4A5-DB8E-4877-AFA9-9C789B2AC683
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50347029-11B4E4A5-DB8E-4877-AFA9-9C789B2AC683
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Statement
wasDerivedFrom
c2990883fdb653f79f524afc410d01241e88760b
P2860
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.