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Q50318604-9FF62D54-68C9-4BB6-9F12-EBFD52D97AD1
Q50318604-9FF62D54-68C9-4BB6-9F12-EBFD52D97AD1
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Statement
http://www.wikidata.org/entity/statement/Q50318604-9FF62D54-68C9-4BB6-9F12-EBFD52D97AD1
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
P2860
Q50318604-9FF62D54-68C9-4BB6-9F12-EBFD52D97AD1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50318604-9FF62D54-68C9-4BB6-9F12-EBFD52D97AD1
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wasDerivedFrom
4f169de46f08d1c9317f171f32e0f07d39a118ed
P2860
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.