Varaico: Literature-Extracted Genetic Variants

Gene:KRT85
Variant:p.P483delFs
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KRT85

NM_002283.4:p.P483delFs

Associated Papers

Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia.

Amico S et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia.

Shimomura Y et al.

The Journal of Investigative Dermatology, 2010

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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."