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Q37356290-AEF16A25-897D-4989-9362-91A375CCE4C6
Q37356290-AEF16A25-897D-4989-9362-91A375CCE4C6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37356290-AEF16A25-897D-4989-9362-91A375CCE4C6
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
P2860
Q37356290-AEF16A25-897D-4989-9362-91A375CCE4C6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37356290-AEF16A25-897D-4989-9362-91A375CCE4C6
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wasDerivedFrom
ea20ed848af6aab3d16b102b9bafc54dc59d47b6
P2860
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.