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P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*

Document Type

Abstract

Author

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

Source

In Genetics in Medicine Open 2024 2 Supplement 1

Subject

Language

ISSN

2949-7744

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Full Text (ScienceDirect O/A) Find it@PNU

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