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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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O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience

Emily Groopman, Amanda Thomas-Wilson,Shruthi Mohan,Jennifer Goldstein,Meredith Weaver,Raquel Fernandez, Heidi Wallis, Ljuba Caldovic,Nicholas Ah Mew,Irene De Biase,Ann Moser,Sharon Suchy,Tatiana Yuzyuk, Sarah Young, Saadet Mercimek-Andrews,Nancy Braverman,Rong Mao

Genetics in Medicine Open（2023）

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inborn errors,metabolism,variant interpretation,x-linked
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