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Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.803088

Abstract: Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inversion or… read more here.

Keywords: neurodevelopmental disorders; structural abnormalities; chromosomal structural; analysis ... See more keywords