Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.N188H
Back to variants list

KRT1

NM_006121.4:p.N188H

Associated Papers

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Sun Q et al.

Jama Dermatology, 2022

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.

Calì F et al.

Dermatology Online Journal, 2020

Epidermolytic hyperkeratosis: clinical update.

Peter Rout D et al.

Clinical, Cosmetic and Investigational Dermatology, 2019

Epidermolytic Ichthyosis Sine Epidermolysis.

Eskin-Schwartz M et al.

The American Journal of Dermatopathology, 2017

Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.

Kim T et al.

Pediatric Dermatology, 0

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."