Varaico: Literature-Extracted Genetic Variants

Gene:TMC8
Variant:p.G100Splc
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TMC8

NM_152468.5:p.G100Splc

Associated Papers

Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene.

Ura H et al.

Stem Cell Research, 2022

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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."