[report describes a tau S305S family where mutation carriers have frontotemporal dementia and parkinsonism; findings support previous studies demonstrating that the S305S mutation influences splicing of tau exon 10 & results in an overproduction of 4R tau ]. 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