Varaico: Literature-Extracted Genetic Variants

Gene:GARS1
Variant:p.I334F
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GARS1

NM_002047.4:p.I334F

Associated Papers

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Meyer AP et al.

Human Mutation, 2022

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."