Article

17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation

2023-02-01

Abstract excerpt

Copy number variants (CNVs) have been identified as common genomic variants that play a significant role in inter-individual variability. The rare recurrent CNVs have been found to be causal for many disorders with well-established genotype-phenotype relationships. However, the phenotypic implications of rare non-recurrent CNVs remain poorly understood. Herein, we re-investigated 18,664 cases reported from chromos...

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Literature Corpus work: a90eb829-0b5f-5678-adac-4b58e42b5217
DOI: 10.21203/rs.3.rs-2529832/v1

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