Varaico: Literature-Extracted Genetic Variants

Gene:GARS1
Variant:p.Q302*
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GARS1

NM_002047.4:p.Q302*

Associated Papers

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Antonellis A et al.

American Journal of Human Genetics, 2003

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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."