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From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene by Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Published 2022-02-01
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Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes by Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska
Published 2020-09-01
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