Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.I183M
Back to variants list

KRT5

NM_000424.4:p.I183M

Associated Papers

Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.

Ota VK et al.

Clinical and Experimental Dermatology, 2025

Digenic inheritance in epidermolysis bullosa simplex.

Padalon-Brauch G et al.

The Journal of Investigative Dermatology, 2012

Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.

Chamcheu JC et al.

The British Journal of Dermatology, 2010

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."