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Bi-allelic SNAPC4 variants lead to altered global splicing and a neurodevelopmental disorder

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NIAID Data Ecosystem2026-03-14 收录
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To investigate the transcriptomic effects of deleterious SNAPC4 variants, patient-derived cells and SNAPC4-deficient HeLa cells were used to generate RNA-Seq data. Four comparisons were made: 1) PolyA-selected data from patient-derived fibroblasts against control fibroblasts, 2) PolyA-selected data from a parental HeLa-Cas9 line against SNAPC4-deficient HeLa cells, 3) small RNA-selected data from patient-derived fibroblasts against control fibroblasts, and 4) small RNA-selected data from a parental HeLa-Cas9 line against SNAPC4-deficient HeLa cells

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2022-11-03
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