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Q36695102-5321285F-A733-403F-B3C6-6B722F5063E4
Q36695102-5321285F-A733-403F-B3C6-6B722F5063E4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36695102-5321285F-A733-403F-B3C6-6B722F5063E4
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood
P2860
Q36695102-5321285F-A733-403F-B3C6-6B722F5063E4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36695102-5321285F-A733-403F-B3C6-6B722F5063E4
rank
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Statement
wasDerivedFrom
05f0413c0053b3f17d9a600eacef5ba2ceac7ff6
P2860
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome