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One of the most crucial pathways involved in the metabolism and detoxification of drugs and endobiotics is the glucuronidation process, primarily occurring in the liver. This pathway is catalyzed by glycosyltransferases comprising 22 enzymes such as UGT2B17, which is entirely absent in a large propo...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
DYT1 dystonia is an autosomal-dominantly inherited movement disorder, which is usually caused by a GAG deletion in the TOR1A gene. Due to the reduced penetrance of ~30-40%, the determination of the mutation in a subject is of limited use with regard to actual manifestation of symptoms. In the presen...
ORGANISM(S): Homo sapiens 
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