Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E478K
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KRT5

NM_000424.4:p.E478K

Associated Papers

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.

Jacinto JGP et al.

Journal of Veterinary Internal Medicine, 2020

LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa.

Kiener S et al.

Genes, 2020

32906717 (PubMed )
Supplement: genes-11-01055-s001.zip › TableS1_animal_EB_variants.xlsx › Anim._EB___skin_fragility_genes

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage.

Jansen S et al.

Bmc Genomics, 2013

23826801 (PubMed )
Supplement: 1471-2164-14-446-S6.xls › Sheet1

[Bovine disease-related DNA mutations and their genetic control strategies in breeding for disease resistance].

Yu Y et al.

Yi Chuan = Hereditas, 2012

Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation.

Sugiyama-Fukamatsu H et al.

The Journal of Dermatology, 2009

A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.

Ibeagha-Awemu EM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008

A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire.

Ford CA et al.

The Journal of Investigative Dermatology, 2005

[Genetic mutations of homocysteine metabolism related enzymes in patients with ischemic stroke].

Wu JM et al.

Yi Chuan = Hereditas, 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."