Varaico: Literature-Extracted Genetic Variants

Gene:GRIA2
Variant:p.A643V
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GRIA2

NM_001083619.3:p.A643V

Associated Papers

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.

Tvergaard NK et al.

Clinical Genetics, 2024

A gain-of-function GRIA2 variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment.

Coombs ID et al.

Epilepsia, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."