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Q50318604-96BAB84A-26A7-4468-9507-445E590A9D28
Q50318604-96BAB84A-26A7-4468-9507-445E590A9D28
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50318604-96BAB84A-26A7-4468-9507-445E590A9D28
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
P2860
Q50318604-96BAB84A-26A7-4468-9507-445E590A9D28
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50318604-96BAB84A-26A7-4468-9507-445E590A9D28
rank
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type
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wasDerivedFrom
4f169de46f08d1c9317f171f32e0f07d39a118ed
P2860
Leigh syndrome: One disorder, more than 75 monogenic causes.