. . . . . . . . . . . . "[subjects with mutations in the motor domain present with severe thrombocytopenia and develop nephritis and deafness before the age of 40, while those with mutations in the tail domain have a much lower risk of complications and higher platelet counts ]. 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 . "2014-10-02T12:33:17+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .