Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.R1171L
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SH3TC2

NM_024577.4:p.R1171L

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

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."