Varaico: Literature-Extracted Genetic Variants

Gene:KRT83
Variant:p.S271fs
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KRT83

NM_002282.3:p.S271fs

Associated Papers

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.

Shah K et al.

Journal of Medical Genetics, 2017

Analysis of TYR Gene Pathogenic Variants in a Chinese Mongolian Family with Progressive Symmetric Erythrokeratoderma.

Duan Y et al.

Indian Dermatology Online Journal, 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."