Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R134C
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KRT14

NM_000526.5:p.R134C

Associated Papers

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

Yiasemides E et al.

Clinical and Experimental Dermatology, 2008

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.

Has C et al.

The Journal of Investigative Dermatology, 2006

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

Abu Sa'd J 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

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.

Letai A et al.

Proceedings of the National Academy of Sciences of the United States of America, 1993

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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."