Varaico: Literature-Extracted Genetic Variants

Gene:KRT83
Variant:p.E418K
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KRT83

NM_002282.3:p.E418K

Associated Papers

Gene detection in a family with monilethrix and treatment with 5% topical minoxidil.

Shen Q et al.

Skin Research and Technology : Official Journal of International Society for Bioengineering and the Skin (isbs) [and] International Society for Digital Imaging of Skin (isdis) [and] International Society for Skin Imaging (issi), 2023

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

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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."