Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.L323delFs
Back to variants list

TMC6

NM_001127198.5:p.L323delFs

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

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

Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient.

Gober MD et al.

The Journal of Investigative Dermatology, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."