Articles with "variant gria4" as a keyword



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Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.859140

Abstract: Objective: Neurodevelopmental disorder with or without seizure and gait abnormalities (NEDSGA, MIM * 617864) is a newly described autosomal dominant inherited disease caused by a heterozygous variant in the GRIA4 gene. GRIA4 plays an essential… read more here.

Keywords: variant; variant gria4; gria4; heterozygous missense ... See more keywords