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Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism.
Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism.
2020
Chizuru Ikeda
Toshitaka Kawarai
Chisa Setoyama
Antonio Orlacchio
Hoseki Imamura
Keywords:
rapid onset
Neurosurgery
Neuroradiology
Pediatrics
Juvenile
Neurology
Medicine
Missense mutation
Correction
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