Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.K66fs
Back to variants list

AAGAB

NM_024666.5:p.K66fs

Associated Papers

Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.

Nomura T et al.

The Journal of Dermatology, 2015

Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.

Akasaka E et al.

Journal of Dermatological Science, 2015

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."