. . . . . . . "[mutation located at the second nucleotide in the intron 8 of the Lamp-2 gene (c.1093+2 T > A) that generated exon 8 skipping confirmed at RNA level in Danon disease]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "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" .