Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
scientific article published on April 2017
Author/s
author: Alan H. Beggs, Kathryn North, Beryl B Cummings, Taru Tukiainen, Veronique Bolduc, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Konrad J. Karczewski, Anne H O'Donnell-Luria, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl G Claeys, Himanshu Joshi, Adam Bournazos, Emily C Oates, Mark R Davis, Nigel G Laing, Yoson Park, Volker Straub, Sandra T Cooper, Carsten G Bönnemann, Daniel G. MacArthur, Peter B Kang, Nigel F Clarke, Francesco Muntoni
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