[3 intronic base pair changes, 1 new sequence variation & 2 known polymorphisms were detected, including the GAT/GAC heterozygous state at Asn 164 in 24% of the patients// GAC heterozygosity at Asn 164 is associated with earlier onset of Wilson disease.]. 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