Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.P276delFs
Back to variants list

KRT14

NM_000526.5:p.P276delFs

Associated Papers

Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies.

Shah HH et al.

Frontiers in Medicine, 2025

A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome.

Titeux M et al.

The Journal of Investigative Dermatology, 2011

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."