Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.L126R
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KRT14

NM_000526.5:p.L126R

Associated Papers

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.

Ali FM et al.

Bmc Pediatrics, 2024

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.

Chong SC et al.

Case Reports in Pediatrics, 2020

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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."