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Genomic annotation of a non-coding region deleted on 4q25 [ATAC-seq]

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NIAID Data Ecosystem2026-05-01 收录
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we identified 7 families presenting a new cardiac entity associated with a heterozygous deletion of 2 CTCF binding sites on 4q25, inducing TAD fusion and chromatin conformation remodeling. The CTCF binding sites are located in a gene desert at 1 Mb from the Paired-like homeodomain transcription factor 2 gene (PITX2). ATAC-seq has been performed to identify the accessible chromatin regions and annotate the 4q25 region

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2023-09-28
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