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The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunctionResearch in context by Peter Kovermann, Allan Bayat, Christina D. Fenger, Lisette Leeuwen, Artem Borovikov, Artem Sharkov, Virginie Levrat, Gaetan Lesca, Laurence Perrin, Jonathan Levy, Christoph Fahlke, Rikke S. Møller, Anders A. Jensen
Published 2025-04-01Get full text
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Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. by Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Claire Benetollo, Clément Saccaro, Justine Guguin, Gabriel Sala, Audric Cologne, Marion Delous, Gaetan Lesca, Richard A Padgett, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer
Published 2020-01-01Get full text
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