A Bi‐allelic Loss‐of‐function SARS1 Variant in Children with Neurodevelopmental Delay, Deafness, Cardiomyopathy, and Decompensation During Fever
Human Mutation（2021）
关键词
aminoacylation,aminoacyl-tRNA synthetase,brain,deafness,death,intellectual disability,SARS1,tRNA
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