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Q47853362-42D5CE6C-75CC-4704-9D47-6FF69DFD8616
Q47853362-42D5CE6C-75CC-4704-9D47-6FF69DFD8616
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47853362-42D5CE6C-75CC-4704-9D47-6FF69DFD8616
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.
P2860
Q47853362-42D5CE6C-75CC-4704-9D47-6FF69DFD8616
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47853362-42D5CE6C-75CC-4704-9D47-6FF69DFD8616
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wasDerivedFrom
affa80bfb316b06f720dfbe20b4adfc3659d9d4d
P2860
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.