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排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
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Genotype-Phenotype Relations for Episodic Ataxia Genes: MDSGene Systematic Review.

Diana Angelika Olszewska,Aakash Shetty,Rajasumi Rajalingam,Jon Rodriguez-Antiguedad,Moath Hamed, Jana Huang,Marianthi Breza, Ashar Rasheed, Natascha Bahr, Harutyan Madoev,Ana Westenberger,Joanne Trinh,Katja Lohmann,Christine Klein,Connie Marras, Olga Waln

European journal of neurology（2023）

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摘要
Given this overlap, a broad approach to genetic testing using a panel or whole exome or genome approach is most practical in most circumstances.
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关键词
episodic ataxia, CACNA1A, KCNA1, PDHA1
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