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Q52639025-11E55339-5C58-40B5-9D70-50F2B6C0F67C
Q52639025-11E55339-5C58-40B5-9D70-50F2B6C0F67C
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http://www.wikidata.org/entity/statement/Q52639025-11E55339-5C58-40B5-9D70-50F2B6C0F67C
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
P2860
Q52639025-11E55339-5C58-40B5-9D70-50F2B6C0F67C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52639025-11E55339-5C58-40B5-9D70-50F2B6C0F67C
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wasDerivedFrom
089dc7572f20d16c27f12a18474aea30f6405652
P2860
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.