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Q50318604-A67B0809-6621-4B12-894C-948EE5D34610
Q50318604-A67B0809-6621-4B12-894C-948EE5D34610
BestRank
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http://www.wikidata.org/entity/statement/Q50318604-A67B0809-6621-4B12-894C-948EE5D34610
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
P2860
Q50318604-A67B0809-6621-4B12-894C-948EE5D34610
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50318604-A67B0809-6621-4B12-894C-948EE5D34610
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wasDerivedFrom
4f169de46f08d1c9317f171f32e0f07d39a118ed
P2860
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome