Gene symbol: PANK2. Disease: Pantothenate kinase associated neurodegeneration (PKAN).
Department of Human Genetics, Ruhr-University, Bochum, Germany. stefan.wieczorek@rub.de
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D019943:Amino Acid Substitution; D006801:Humans; D020125:Mutation, Missense; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase