Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.R1052*
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SH3TC2

NM_024577.4:p.R1052*

Associated Papers

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Rehbein T et al.

Brain : a Journal of Neurology, 2023

Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Sun B et al.

Acta Neurologica Belgica, 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."