Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3
Jean‐Madeleine de Sainte Agathe, Julien Van‐Gils, Eulalie Lasseaux, Benoı̂t Arveiler, Didier Lacombe, Clémence Pfirrmann, Virginie Raclet, Laëtitia Gaston, Claudio Plaisant, Jérôme Aupy, Aurélien Trimouille
Topics & Concepts
Missense mutationPhenotypeIntellectual disabilityEpilepsyMedicineGeneticsMutationPediatricsBiologyGenePsychiatryIon Channels and ReceptorsBiochemical Analysis and Sensing TechniquesConnexins and lens biology