Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.S32T
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KRT14

NM_000526.5:p.S32T

Associated Papers

Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.

Kumar A et al.

Clinical and Experimental Dermatology, 2025

Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation.

Gray C et al.

Journal of Drugs in Dermatology : Jdd, 2011

Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.

Harel A et al.

The Journal of Investigative Dermatology, 2006

A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.

Indelman M et al.

The Journal of Investigative 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."