Associated Papers
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
Meyer AP et al.
Human Mutation, 2022
Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.
Huang Y et al.
Molecular Genetics & Genomic Medicine, 2022
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
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