[Mutation associated with symptomatic phenotype of Meesmann's corneal dystrophy/in substitution of proline for arginine in helix termination motif that may disrupt normal helix, leading to dramatic structural change of keratin 12 protein.]. 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