Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.I477N
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KRT2

NM_000423.3:p.I477N

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

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Sun Q et al.

Jama Dermatology, 2022

Superficial epidermolytic ichthyosis: a report of two families.

Cervantes T et al.

Pediatric Dermatology, 0

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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."