Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.L143delFs
Back to variants list

KRT14

NM_000526.5:p.L143delFs

Associated Papers

Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex.

Roth W et al.

Human Mutation, 2009

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

Yiasemides E et al.

Clinical and Experimental Dermatology, 2008

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Lugassy J et al.

American Journal of Human Genetics, 2006

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.

Has C et al.

The Journal of Investigative Dermatology, 2006

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."