Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.V143F
Back to variants list

KRT5

NM_000424.4:p.V143F

Associated Papers

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.

Chong SC et al.

Case Reports in Pediatrics, 2020

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.

Mariath LM et al.

Clinical Genetics, 2019

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Wertheim-Tysarowska K et al.

Journal of Applied Genetics, 2016

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.

Kang TW et al.

Journal of Dermatological Science, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."