Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.S831delFs
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SH3TC2

NM_024577.4:p.S831delFs

Associated Papers

Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.

Frezatti RSS et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2025

Genetic aspects of ataxias in a cohort of Turkish patients.

Gogus B et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.

Shchagina O et al.

Frontiers in Genetics, 2024

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

Gosselin I et al.

Neuromuscular Disorders : Nmd, 2008

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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."