Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.R283C
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ITGB4

NM_000213.5:p.R283C

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

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.

Soyer T et al.

American Journal of Medical Genetics. Part A, 2021

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

Ashton GH et al.

The British Journal of Dermatology, 2001

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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."