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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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41 Specifications of ACMG/AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants: Recommendations by ClinGen’s Severe Combined Immunodeficiency Disease Variant Curation Expert Panel

Justyne Ross, Benjamin McLean, Grace Leon-Lozano, Vanessa Jacovas, Michelle Zelnick,Alice Chan, Nicolai van Oers,Britt Johnson,Ivan Chinn

Clinical Immunology（2024）

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SCID,Variant classification,ClinGen
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