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P576: Recalibration of Scoring Metrics to Assess the Pathogenicity of Constitutional Copy Number Variants (Cnvs)*

Emily Spector,Erica Andersen,John Herriges, Anne Higgins,Brynn Levy,Ludmila Matyakhina,Christa Martin,Daniel Pineda-Alvarez,Lina Shao,Shashirekha Shetty,Andrea Vaags,Erik Thorland,Sung-Hae Kang,Chelsea Lowther,Dominic McMullan,Erin Riggs

Genetics in Medicine Open（2024）

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关键词
ACMG Guidelines,Copy Number Variation
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