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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT5

Variant:p.C479delFs

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KRT5

NM_000424.4:p.C479delFs

hg38:chr12:52516638 TG>T

Associated Papers

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.

Kang TW et al.

Journal of Dermatological Science, 2010

20060687 (PubMed )

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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."