Genetic diagnosis of Mendelian disorders via RNA sequencing
通过 RNA 测序进行孟德尔遗传病诊断
期刊:Nature Communications
影响因子:14.7
doi:10.1038/ncomms15824
Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donat