[Mutations in the NF1 gene (17q11.2) cause neurofibromatosis type 1 (NF1), a pleiotropic and progressive autosomal dominant disorder with marked variability of clinical expression.]. 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