Exon Recombination
Pleiotropy
Alternative RNA Splicing
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Tam P Sneddon1,2, Scott A Melville2, Mai Xiong1
1Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.
Long-read sequencing successfully identified a complex ARID1B gene rearrangement missed by previous genetic tests. This advanced sequencing method is crucial for diagnosing rare genetic disorders and unexplained developmental delays.
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