Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.
作者信息
Ros-Arlanzón Pablo, Serrano-Serrano Blanca, Aledo-Sala Carlos, Guevara-Dalrymple Natasha, Martí-Martínez Silvia
机构信息
Department of Neurology, Dr. Balmis General University Hospital, Alicante, Spain.
Alicante Institute for Health and Biomedical Research (ISABIAL), Alicante, Spain.
出版信息
Mov Disord Clin Pract. 2024 Aug;11(8):1041-1043. doi: 10.1002/mdc3.14128. Epub 2024 May 31.
Abstract
摘要
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