Varaico: Literature-Extracted Genetic Variants

Gene:GARS1
Variant:p.E333Q
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GARS1

NM_002047.4:p.E333Q

Associated Papers

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

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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."