RDEB is a rare bullous genodermatosis caused by mutations in COL7A1. Clinical features range from severe wounds to esophageal strictures and anemia. Prior work has identified associations of biallelic COL7A1 premature termination codon (PTC) with more disease, likely absent or severely truncated type VII collagen (C7), but genotype-phenotype for other including splice site (SP) missense (MS) re...
