GRIN2A-related disorders: genotype and functional consequence predict phenotype
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DOI: 10.1093/brain/awy304
Abstract: Strehlow et al. describe the largest cohort to date of individuals with GRIN2A-related disorders. The results reveal two phenotypic subgroups associated with different classes of variants affecting distinct domains of the GluN2A protein with different… read more here.
Keywords: genotype functional; functional consequence; disorders genotype; grin2a related ... See more keywords