Varaico: Literature-Extracted Genetic Variants

Gene:KRT86
Variant:p.E413K
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KRT86

NM_001320198.2:p.E413K

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

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

Svendsen T et al.

Acta Dermato-venereologica, 2014

Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.

Kubo A et al.

The Journal of Dermatology, 2013

The molecular basis of human keratin disorders.

Arin MJ

Human Genetics, 2009

[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].

Feng AP et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

Hair follicle-specific keratins and their diseases.

Schweizer J et al.

Experimental Cell Research, 2007

More than one gene involved in monilethrix: intracellular but also extracellular players.

Schweizer J

The Journal of Investigative Dermatology, 2006

A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin.

Khandpur S et al.

Annales De Genetique, 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."