Varaico: Literature-Extracted Genetic Variants

Gene:ITGA6
Variant:p.A948insFs
Back to variants list

ITGA6

NM_000210.4:p.A948insFs

Associated Papers

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.

Higgins R et al.

Acta Dermato-venereologica, 2020

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."