دورية أكاديمية
P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)
| العنوان: | P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs) |
|---|---|
| المؤلفون: | 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 |
| المصدر: | Genetics in Medicine Open, Vol 2, Iss , Pp 101482- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Genetics LCC:Medicine |
| مصطلحات موضوعية: | Genetics, QH426-470, Medicine |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2949-7744 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2949774424006289; https://doaj.org/toc/2949-7744 |
| DOI: | 10.1016/j.gimo.2024.101482 |
| URL الوصول: | https://doaj.org/article/6b825c0959e04ded8ace392a65ab52d6 |
| رقم الأكسشن: | edsdoj.6b825c0959e04ded8ace392a65ab52d6 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 29497744 |
|---|---|
| DOI: | 10.1016/j.gimo.2024.101482 |