Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.V270A
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KRT14

NM_000526.5:p.V270A

Associated Papers

Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14.

Misaki M et al.

The Journal of Dermatology, 2024

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Wertheim-Tysarowska K et al.

Journal of Applied Genetics, 2016

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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."