Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.R94*
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TMC6

NM_001127198.5:p.R94*

Associated Papers

Aggressive Squamous Cell Carcinoma in a Case of Epidermodysplasia Verruciformis Carrying a TMC6 Splice-site Mutation.

Yokoi K et al.

Acta Dermato-venereologica, 2023

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

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients.

Kalińska-Bienias A et al.

Postepy Dermatologii I Alergologii, 2016

Epidermodysplasia verruciformis.

Burger B et al.

Current Problems in Dermatology, 2014

Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses.

Lazarczyk M et al.

The Journal of Experimental Medicine, 2008

Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP.

Donfack J et al.

International Journal of Pediatric Otorhinolaryngology, 2006

Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis.

Ramoz N et al.

Nature Genetics, 2002

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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."