Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.L486Q
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KRT1

NM_006121.4:p.L486Q

Associated Papers

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.

Frommherz L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings.

Bygum A et al.

Acta Dermato-venereologica, 2013

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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."