. . . . . . . "[Isoforms - novel exon, exon 12b, was specifically expressed in the brain and heart, especially in the cerebellum/, disease-associated aberrant splicings found in two patients with nevoid basal cell carcinoma syndrome.]. 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 . "2017-10-17T13:15:44+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .