Article

Structural variants in the Epb41l4a locus may cause disruption of TADs, misregulation of the Nrep gene, and neurodevelopmental outcomes

2023-08-22

Abstract excerpt

Structural variations are a pervasive feature of human genomes, and there is growing recognition of their role in disease development through their impact on spatial chromatin architecture. This understanding has led us to investigate the clinical significance of CNVs in noncoding regions that influence TAD structures. In this study, we focused on the Epb41l4a locus, which contains a highly conserved TAD boundary...

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Literature Corpus work: 67d02dfb-fd9b-5a38-afab-b72da9ac6004
DOI: 10.21203/rs.3.rs-3255814/v1

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Structural variants in the Epb41l4a locus may cause disruption of TADs, misregulation of the Nrep gene, and neurodevelopmental outcomesDOI 10.21203/rs.3.rs-3255814/v1Read

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