Spector, E., Andersen, E., Herriges, J., Higgins, A., Levy, B., Matyakhina, L., Martin, C., Pineda-Alvarez, D., Shao, L., Shetty, S., Vaags, A., Thorland, E., Kang, S.-H., Lowther, C., McMullan, D., & Riggs, E. (2024). P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*. Genetics in Medicine Open, 2, 101482. https://doi.org/10.1016/j.gimo.2024.101482
Columbia Affiliation:
Subjects:
Standards and Guidelines for Genetic Variant Interpretation
(OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations
(OpenAlex Topic)
Publication Type:
Article
Unique ID:
10.1016/j.gimo.2024.101482
Journal:
Publication Date:
Data Source:
OpenAlex
Source Link: