Autor: Sophie Rondeau
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Deep intronic <i>NIPBL</i> variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
European Journal of Human Genetics, Published online: 19 October 2026; doi:10.1038/s41431-026-02259-8Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
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Deep intronic <i>NIPBL</i> variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
European Journal of Human Genetics, Published online: 19 October 2026; doi:10.1038/s41431-026-02259-8Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis