Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G113C
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KRT5

NM_000424.4:p.G113C

Associated Papers

Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.

Savostyanov K et al.

International Journal of Molecular Sciences, 2022

[Genodermatoses - pathogenesis and molecular diagnostics].

Wertheim-Tysarowska K

Postepy Biochemii, 2018

Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.

Szczecinska W et al.

The British Journal of Dermatology, 2014

[Epidermal barrier - molecular structure and disorders in selected ichthyoses].

Śniegórska D et al.

Postepy Biochemii, 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."