Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.E88E
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ITGB4

NM_000213.5:p.E88E

Associated Papers

High prevalence of extracutaneous involvement in ITG junctional epidermolysis bullosa.

Bonigen J et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature.

Klangjorhor J et al.

International Journal of Genomics, 2025

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.

Schumann H et al.

The British Journal of Dermatology, 2013

Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.

Dang N et al.

Acta Dermato-venereologica, 2008

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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."