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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… Click to show full 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 functional consequences. The findings will help predict outcomes in newly diagnosed individuals.
Keywords:
genotype functional;
functional consequence;
disorders genotype;
grin2a related;
consequence predict;
related disorders
Journal Title: Brain
Year Published: 2019
Link to full text (if available)
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Journal Title: Brain
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!