Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.T1236fs
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ITGB4

NM_000213.5:p.T1236fs

Associated Papers

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

Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.

Luo C et al.

Frontiers in Pediatrics, 2023

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

Mencía Á et al.

Experimental Dermatology, 2016

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