Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.L166delFs
Back to variants list

AAGAB

NM_024666.5:p.L166delFs

Associated Papers

Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.

Hasegawa A et al.

The Journal of Dermatology, 2021

Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing.

Kono M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

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."