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Q24546476-1D9DC930-52C1-4F3C-BC9D-882031E0E1D9
Q24546476-1D9DC930-52C1-4F3C-BC9D-882031E0E1D9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24546476-1D9DC930-52C1-4F3C-BC9D-882031E0E1D9
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia
P2860
Q24546476-1D9DC930-52C1-4F3C-BC9D-882031E0E1D9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24546476-1D9DC930-52C1-4F3C-BC9D-882031E0E1D9
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wasDerivedFrom
587aed3f1c540c1ecc5ce21d55d70737c52c7c38
P2860
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.