[Physiological effects of four mutations (T245P, T283M, R306H, T463M) in human TyrH that cause a mild form of DOPA-responsive dystonia are primarily due to the decreased stability of the mutant proteins rather than decreases in their intrinsic activities.]. 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