. . . . . . . "[Germline mutations of the BHD gene are involved in some patients with multiple lung cysts & pneumothorax/were new: 3 deletions or insertions in exons 6, 12 & 13, & a splice acceptor site mutation in intron 5 resulting in an in-frame deletion of exon 6.]. 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 . "2017-10-17T13:19:10+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .