. . . . . . . "[The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:10:57+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .