[G386R missense mutation and an intragenic deletion spanning exons 3-7 and homozygous splice site mutation, p.A253SfsX30 found in papillon-Lefevre syndrome ]. 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