Genetic diagnosis of Mendelian disorders via RNA sequencing

Summary

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Authors: Laura S Kremer, View ORCID ProfileDaniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliska Konafikova, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donati, Valeria Tiranti, Anne Lombes, Claude Jardel, Dieter Gläser, Robert W Taylor,

Journal publisher: bioRxiv

Published year: 2016

DOI identifier: 10.1101/066738