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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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Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience

Emily Groopman,Jenny Goldstein,Alexa Dickson, Diane Zastrow,Shruthi Mohan,Amanda Thomas-Wilson,Ljubica Caldovic, Emily Kyle, Tatiana Yuzyuk,Irene De Biase,Kara Simpson,Dona Kanavy,Elaine Spector,Marzia Pasquali,Catherine Rehder,Andrew Stergachis, Michelle Whirl-Carlo,Heather Baudet, Christina Hung,Nancy E. Braverman

Molecular Genetics and Metabolism（2024）

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