A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia.
作者信息
Schöggl Johanna, Siegert Sandy, Boltshauser Eugen, Freilinger Michael, Schmidt Wolfgang M
机构信息
Department of Pediatric and Adolescent Medicine, Medical University Vienna, Vienna, Austria.
Department of Pediatric Neurology (Emeritus), University Children's Hospital Zurich, Zurich, Switzerland.
出版信息
Mov Disord. 2022 Aug;37(8):1774-1776. doi: 10.1002/mds.29054. Epub 2022 May 12.
Abstract
摘要
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