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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT1

Variant:p.G594_G596delFs

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KRT1

NM_006121.4:p.G594_G596delFs

hg38:chr12:52675340 GCCGCCGCC>G

Associated Papers

A novel mutation resulting in keratin 1-linked palmoplantar keratoderma with epidermolytic ichthyosis.

Gray T et al.

Jaad Case Reports, 2020

32864403 (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."