Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.E553*
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SH3TC2

NM_024577.4:p.E553*

Associated Papers

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.

Shchagina O et al.

International Journal of Molecular Sciences, 2023

Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C.

Duan X et al.

Frontiers in Neurology, 2021

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

Liu X et al.

European Journal of Neurology, 2020

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

Sun B et al.

Journal of the Peripheral Nervous System : Jpns, 2017

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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."