Varaico: Literature-Extracted Genetic Variants

Gene:GRIA3
Variant:p.A654T
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GRIA3

NM_007325.5:p.A654T

Associated Papers

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

Tvergaard NK et al.

Clinical Genetics, 2024

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Allen JP et al.

Human Molecular Genetics, 2024

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

Davies B et al.

Human Molecular Genetics, 2017

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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."