Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.R463R
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KRT1

NM_006121.4:p.R463R

Associated Papers

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

Kiritsi D et al.

The Journal of Allergy and Clinical Immunology, 2015

Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.

Guo Y et al.

Genetics and Molecular Research : Gmr, 2014

Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.

Bavarva JH et al.

Oncotarget, 2014

24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf
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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."