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Q52639025-92BD4540-B7A3-4F08-8C6A-56513C1BA623
Q52639025-92BD4540-B7A3-4F08-8C6A-56513C1BA623
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Statement
http://www.wikidata.org/entity/statement/Q52639025-92BD4540-B7A3-4F08-8C6A-56513C1BA623
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
P2860
Q52639025-92BD4540-B7A3-4F08-8C6A-56513C1BA623
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52639025-92BD4540-B7A3-4F08-8C6A-56513C1BA623
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wasDerivedFrom
089dc7572f20d16c27f12a18474aea30f6405652
P2860
Reduced amino acid specificity of mammalian tyrosyl-tRNA synthetase is associated with elevated mistranslation of Tyr codons.