Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.W925*
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SH3TC2

NM_024577.4:p.W925*

Associated Papers

[A case of neuronal intranuclear inclusion disease presenting with leukoencephalopathy after the diagnosis of Charcot-Marie-Tooth disease type 4C].

Sakurai Y et al.

Rinsho Shinkeigaku = Clinical Neurology, 2026

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

Yuan JH et al.

Journal of Human Genetics, 2018

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.

Ichikawa K et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

[The nosological situation of hereditary motor and sensory neuropathies (HMSN, Charcot-Marie-Tooth disease, neural muscular atrophy)].

Warzok R et al.

Zentralblatt Fur Allgemeine Pathologie U. Pathologische Anatomie, 1990

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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."