Associated Papers
Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.
Yu T et al.
Nucleic Acids Research, 2022
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.
Linnankivi T et al.
Human Mutation, 2016
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