Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R134H
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KRT14

NM_000526.5:p.R134H

Associated Papers

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."