RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women
RPGRorf15纳米孔长读长测序技术可提高男性和女性视网膜色素变性的分子诊断率
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-025-02807-0
Fabard, Manon; Devos, Aurore; Poncet, Anaïs F; Meneboo, Jean-Pascal; Figeac, Martin; Villenet, Céline; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; Meunier, Isabelle; Zanlonghi, Xavier; Grunewald, Olivier; Huin, Vincent; Lecigne, Claire; Smirnov, Vasily; Dhaenens, Claire-Marie