P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*
| Autor: | 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 |
|---|---|
| Zdroj: | In Genetics in Medicine Open 2024 2 Supplement 1 |
| Databáze: | ScienceDirect |
| Externí odkaz: |
|