. . . . . . . "[Interestingly, dystonin is significantly more abundant in cells of familial dysautonomia patients with IKBKAP (I-?-B kinase complex-associated protein) mutation compared to fibroblasts of controls, suggesting that upregulation of dystonin is responsible for the milder course in familial dysautonomia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:10:58+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .