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Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability

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Date: September 8, 2025
Authors:
Amélie Cordovado, Anne-Sophie Denommé-Pichon, Annick Toutain, Antonio Vitobello, Beatriz Martínez-Delgado, Brooklynn Gasser, Coline Cormier, Estrella López-Martín, Eva Bermejo-Sánchez, Frédéric Laumonnier, Giulia Barcia, Hamza Hadj Abdallah, Hannah Stamberger, Laurence Faivre, Marie-Laure Vuillaume, María J Barrero, Sarah Weckhuysen, Stéphane Bezieau, Sébastien Küry, Thomas Courtin, Yvan Hérenger
Journal: Human Mutation
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