. . . . . . . "[We report somatic mutations in the RET intron 1 region of affected HSCR tissue, confirming for the first time that somatic mutations are present in aganglionic tissue and may promote local aganglionosis through deregulated receptor activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:15:56+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .