Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.H1102delFs
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SH3TC2

NM_024577.4:p.H1102delFs

Associated Papers

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R et al.

Neurology, 2013

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Lupo V et al.

Human Molecular Genetics, 2009

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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."