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Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing by Céline Bris, Céline Bris, David Goudenege, David Goudenege, Valérie Desquiret-Dumas, Valérie Desquiret-Dumas, Majida Charif, Estelle Colin, Estelle Colin, Dominique Bonneau, Dominique Bonneau, Patrizia Amati-Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Pascal Reynier, Vincent Procaccio, Vincent Procaccio
Published 2018-12-01
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Primary mitochondrial disorders and mimics: Insights from a large French cohort by Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio
Published 2024-06-01
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