Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L175R
Back to variants list

KRT5

NM_000424.4:p.L175R

Associated Papers

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

Sathishkumar D et al.

The Journal of Investigative Dermatology, 2016

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."