. . . . . . . "[Three mutant forms of TREX1 protein identified in patients with Aicardi-Gouti�res syndrome were prepared and the measured activities show that these specific mutations reduce enzyme activity by 4-35,000-fold.]. 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 . "2017-10-17T13:18:08+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .