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Q50318604-6F64C009-47BA-4907-9BB8-B0B7EDAA1264
Q50318604-6F64C009-47BA-4907-9BB8-B0B7EDAA1264
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50318604-6F64C009-47BA-4907-9BB8-B0B7EDAA1264
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
P2860
Q50318604-6F64C009-47BA-4907-9BB8-B0B7EDAA1264
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50318604-6F64C009-47BA-4907-9BB8-B0B7EDAA1264
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wasDerivedFrom
4f169de46f08d1c9317f171f32e0f07d39a118ed
P2860
Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine.