Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.T2P
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KRT14

NM_000526.5:p.T2P

Associated Papers

Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India.

Vellarikkal SK et al.

Human Genome Variation, 2014

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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."