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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GARS1

Variant:p.C180W

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GARS1

NM_002047.4:p.C180W

hg38:chr7:30601171 C>G

Associated Papers

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R et al.

Neurology, 2013

24078732 (PubMed )

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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."