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Protein domains provide a new layer of information for classifying human variations in rare diseases by Mélanie Corcuff, Marc Garibal, Jean-Pierre Desvignes, Céline Guien, Coralie Grattepanche, Gwenaëlle Collod-Béroud, Estelle Ménoret, David Salgado, Christophe Béroud, Christophe Béroud
Published 2023-02-01
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Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish by Gaëlle Odelin, Adèle Faucherre, Damien Marchese, Amélie Pinard, Hager Jaouadi, Solena Le Scouarnec, FranceGenRef Consortium, Raphaël Chiarelli, Younes Achouri, Emilie Faure, Marine Herbane, Alexis Théron, Jean-François Avierinos, Chris Jopling, Gwenaëlle Collod-Béroud, René Rezsohazy, Stéphane Zaffran
Published 2023-03-01
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