. . . . . . . . . . . . "[Our analysis includes the first description of homozygous BDB in an individual with a 5-bp deletion proximal to the TK domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:35:00+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .