Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.C737_P738del1
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SH3TC2

NM_024577.4:p.C737_P738del1

Associated Papers

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

Lupo V et al.

The Journal of Molecular Diagnostics : Jmd, 2016

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."