Associated Papers
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B et al.
Brain : a Journal of Neurology, 2024
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP et al.
Human Molecular Genetics, 2024
37944084 (PubMed )
Supplement: grid_variants_supplemental_revised_10-26-2023_final_rev_ddad188.pdf
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Bonnemason-Carrere P et al.
American Journal of Medical Genetics. Part A, 2019
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