. . . . . . . . . . . . "[Considering the prevalence of truncating mutations in the tuberous sclerosis (TSC) hamartin gene (TSC1), we devised a protein truncation test (PTT) to analyze the full length coding sequence of TSC1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-02-21"^^ . "2015-08-25T14:37:44+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .