. . . . . . . "[Eye examinations confirmed the presence of retinopathy in the 2 boys and their maternal aunt, obligate carrier for the S157X mutation in LAMP2.]. 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 . "2017-10-17T13:14:14+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .