Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.D1263E
Back to variants list

ITGB4

NM_000213.5:p.D1263E

Associated Papers

Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin.

Koster J et al.

The Journal of Investigative Dermatology, 2001

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."