Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.G171E
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SH3TC2

NM_024577.4:p.G171E

Associated Papers

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.

Saveri P et al.

Cells, 2020

32326241 (PubMed )
Supplement: cells-09-01028-s001.zip › Table_S3.xlsx › 2449_S14_L001_annot_extract.tab

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.

Zhao X et al.

Chinese Medical Journal, 2018

[A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing].

Luo W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002

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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."