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A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment

Shuxiang Goh, Lavvina Thiyagarajan, Tracy Dudding‐Byth, Mark Pinese, Edwin P Kirk

2024Genetics in Medicine23 citationsDOI

Topics & Concepts

Copy-number variationPenetranceGeneticsBiologyMeta-analysisComputational biologyMedicineInternal medicineGenePhenotypeGenomeGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment | Litcius