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RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
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DOI：10.1016/j.gim.2026.102633.png)
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Abstract
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We aim to better define the genotype and phenotype spectrum of RNU4ATAC-opathy, demonstrate the utility of RNA sequencing for variant classification, and highlight challenges in detecting variants in this noncoding gene.
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