ITGB4 and esophageal cancer: Alternatively, single nucleotide polymorphisms (SNPs) may influence the production of the splice variant since point mutations in esophageal cancers will influence ITGB4E production (Kelly et al., 2020), and others have reported nucleotide substitutions in ITGB4 far from the splice site result in a splicing abnormality that underlies the disease state of pyloric atresia-junctional epidermolysis bullosa syndrome (Masunaga et al., 2015).