Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.R190*
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TMC8

NM_152468.5:p.R190*

Associated Papers

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

Common variable immunodeficiency syndrome associated with epidermodysplasia verruciformis.

Vu J et al.

American Journal of Clinical Dermatology, 2007

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

A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis.

Sun XK et al.

Clinical and Experimental Dermatology, 2005

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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."