Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.Y1182*
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SH3TC2

NM_024577.4:p.Y1182*

Associated Papers

Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.

Frezatti RSS et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2025

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

Yuan JH et al.

Journal of Human Genetics, 2018

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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."