Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.E576*
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TMC6

NM_001127198.5:p.E576*

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

Cervical dysplasia in a patient with inherited epidermodysplasia verruciformis-A mere coincidence?

Singh AP et al.

Journal of Cutaneous Pathology, 2021

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

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

Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis.

Zuo YG et al.

Journal of Dermatological Science, 2006

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

Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.

Tate G et al.

Journal of Human Genetics, 2004

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."