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Q24339517-E4816157-C9CF-4F0B-BBA4-3E381E575455
Q24339517-E4816157-C9CF-4F0B-BBA4-3E381E575455
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24339517-E4816157-C9CF-4F0B-BBA4-3E381E575455
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures
P2860
Q24339517-E4816157-C9CF-4F0B-BBA4-3E381E575455
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24339517-E4816157-C9CF-4F0B-BBA4-3E381E575455
rank
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type
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Statement
wasDerivedFrom
7b7395f074c7f89adafca69f9544f5bb967a07aa
P2860
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.