Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.A413P
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KRT14

NM_000526.5:p.A413P

Associated Papers

Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.

Mirza H et al.

The Journal of Investigative Dermatology, 2015

Consequences of two different amino-acid substitutions at the same codon in KRT14 indicate definitive roles of structural distortion in epidermolysis bullosa simplex pathogenesis.

Natsuga K et al.

The Journal of Investigative Dermatology, 2011

The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex.

Murrell DF et al.

The Journal of Investigative 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."