Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.R648W
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SH3TC2

NM_024577.4:p.R648W

Associated Papers

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

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K et al.

Bmc Medical Genetics, 2020

32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1

Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.

Kontogeorgiou Z et al.

Journal of the Peripheral Nervous System : Jpns, 2019

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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."