Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling
利用长读长测序和转录组分析扩展遗传代谢疾病的遗传图谱
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01995-7
Soriano-Sexto, Alejandro; Sánchez-Lijarcio, Obdulia; Beccari, Leonardo; Castejón-Fernández, Natalia; Leal, Fátima; Alcaide, Patricia; de la Morena-Barrio, Belén; Bahíllo-Curieses, María Del Pilar; Correcher, Patricia; Hencke-Tresbach, Rafael; López, Laura; Martín-Hernández, Elena; Yahyaoui, Raquel; Ugarte, Magdalena; Rodríguez-Pombo, Pilar; Pérez, Belén
