Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting
超越基因组学:利用干血斑RNA测序揭示剪接变异在诊断中的临床意义
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01792-2
Bertoli-Avella, Aida M; Radefeldt, Mandy; Al-Ali, Ruslan; Pardo, Luba M; Lemke, Sabrina; Leubauer, Anika; Polla, Daniel L; Hörnicke, Rebecca; Almeida, Ligia S; Kandaswamy, Krishna Kumar; Beetz, Christian; Pinto Basto, Jorge; Bauer, Peter