Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.L135V
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SH3TC2

NM_024577.4:p.L135V

Associated Papers

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Cortese A et al.

Brain : a Journal of Neurology, 2025

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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."