Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.R107P
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ITGB4

NM_000213.5:p.R107P

Associated Papers

A novel bladder phenotype in junctional epidermolysis bullosa: a case report.

He Q et al.

Frontiers in Pediatrics, 2025

ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges.

Mattioli G et al.

Acta Dermato-venereologica, 2022

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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."