Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.R77W
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SH3TC2

NM_024577.4:p.R77W

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

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.

Lee S et al.

Journal of Breast Cancer, 2025

41311331 (PubMed )
Supplement: jbc-28-406-s001.xls › jbc-28-406-s001

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

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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."