Varaico: Literature-Extracted Genetic Variants

Gene:KRT81
Variant:p.E402K
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KRT81

NM_002281.4:p.E402K

Associated Papers

Characterization of alternative mRNA splicing in cultured cell populations representing progressive stages of human fetal kidney development.

Wineberg Y et al.

Scientific Reports, 2022

36380228 (PubMed )
Supplement: 41598_2022_24147_MOESM4_ESM.xlsx › toppgene_results

A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.

De Cruz R et al.

The British Journal of Dermatology, 2012

A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix.

Wu J et al.

Journal of Biomedical Research, 2011

[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

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."