Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L65fs
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KRT5

NM_000424.4:p.L65fs

Associated Papers

Severe skin fragility with postnatal lethal outcome due to a biallelic KRT5 mutation.

Altıner Ş et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2021

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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."