Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.K464N
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KRT8

NM_002273.4:p.K464N

Associated Papers

Genetic insight into sick sinus syndrome.

Thorolfsdottir RB et al.

European Heart Journal, 2021

33580673 (PubMed )
Supplement: ehaa1108_supplementary_data.zip › ehaa1108-suppl-data › Revised2_Holm_SSS_Supplementary_Tables.xlsx › S6

Intestinal cell barrier function in vitro is severely compromised by keratin 8 and 18 mutations identified in patients with inflammatory bowel disease.

Zupancic T et al.

Plos One, 2014

Keratins as susceptibility genes for end-stage liver disease.

Ku NO et al.

Gastroenterology, 2005

Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.

Owens DW et al.

Journal of Cell Science, 2004

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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."