Application | Comment | Organism |
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medicine | a young girl with early onset pantothenate kinase-associated neurodegeneration whose initial clinical manifestation is ataxia at the age of 2.5 years and refractory severe dystonia resulting in essentially complete loss of motor control. She has a mutation in PANK2 gene consisting of an amino acid change of alanine to valine in exon 5 (A382V). After Globus Pallidus deep brain stimulation at the age of 11 years, the patient regains useful motor function and speech with a marked decrease in the severity of the dystonia | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | - |
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