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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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P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*

Emily Groopman, Jenny Goldstein,Amanda Thomas-Wilson, Daniel Reich, Emily Kyle,Vimla Aggarwal, Christine Preston, Kim Hart, Nicole Si Yan Liang,Sarah Young, Simona Bianconi,Nicola Longo, Heidi Wallis,Saadet Mercimek-Andrews

Genetics in Medicine Open（2024）

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