Associated Papers
Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.
Mahmood M et al.
Iubmb Life, 2025
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
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz R et al.
American Journal of Medical Genetics. Part A, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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