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