[analysis of a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P) in heparan N-sulphatase in a mucopolysaccharidosis IIIA patient [case report]. 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