[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.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE