[PTC mutations in both alleles generally cause the most severe, mutilating Hallopeau-Siemens (HS) variant of RDEB, whereas none of the PTC mutations resulted in severe phenotypes consistent with the HS subtype when coupled with p.Glu2857X.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE