Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.E429*
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SH3TC2

NM_024577.4:p.E429*

Associated Papers

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

Fischer C et al.

Journal of Neurology, 2012

High frequency of SH3TC2 mutations in Czech HMSN I patients.

Laššuthová P et al.

Clinical Genetics, 2011

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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."