[study demonstrates that the dominant mutation hK18 R89C, that is highly similar to hK14 R125C, causing epidermolysis bullosa in humans, leads to cell type-specific lethality in mice, depending on the ratio of mutant to endogenous keratins ]. 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