. . . . . . . "[Using six new de novo missense diagnoses in TBL1XR1 from the Deciphering Developmental Disorders study, together with population variation data, we show that the ?-propeller structure of the ubiquitous WD40 domain provides a convincing way to discriminate between pathogenic and benign variation.]. 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 . "2017-10-17T13:18:54+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .