Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.D145Y
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ITGB4

NM_000213.5:p.D145Y

Associated Papers

A novel variant c.A527G in ITGB4 leads to autosomal dominant epidermolysis bullosa in China.

Li J et al.

Frontiers in Medicine, 2025

Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy.

Malovitski K et al.

The British Journal of Dermatology, 2022

Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa.

Turcan I et al.

Jama Dermatology, 2016

A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.

Li Z et al.

Pediatric Dermatology, 0

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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."