Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.K116*
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KRT14

NM_000526.5:p.K116*

Associated Papers

A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.

Banner L et al.

Clinical and Experimental Dermatology, 2023

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

García M et al.

The British Journal of Dermatology, 2011

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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."