Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.Q892*
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SH3TC2

NM_024577.4:p.Q892*

Associated Papers

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Rehbein T et al.

Brain : a Journal of Neurology, 2023

Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.

Kanwal S et al.

Bmc Medical Genomics, 2021

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

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

Piscosquito G et al.

Journal of the Peripheral Nervous System : Jpns, 2016

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

Yger M et al.

Journal of the Peripheral Nervous System : Jpns, 2012

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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."