Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.W376Splc
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TMC8

NM_152468.5:p.W376Splc

Associated Papers

TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome.

Durmaz CD et al.

European Journal of Human Genetics : Ejhg, 2026

Identification and Splicing Characterization of Novel TMC6 and TMC8 Variants Associated With Epidermodysplasia Verruciformis in Three Chinese Families.

Wang R et al.

Frontiers in Genetics, 2021

34386043 (PubMed )
Supplement: Data_Sheet_1.docx

Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.

Imahorn E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

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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."