Varaico: Literature-Extracted Genetic Variants

Gene:GRIA3
Variant:p.F655S
Back to variants list

GRIA3

NM_007325.5:p.F655S

Associated Papers

Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene.

Rubino A et al.

Children (basel, Switzerland), 2025

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Rinaldi B et al.

Brain : a Journal of Neurology, 2024

Clinical and functional consequences of GRIA variants in patients with neurological diseases.

XiangWei W et al.

Cellular and Molecular Life Sciences : Cmls, 2023

GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.

Trivisano M et al.

Seizure, 2020

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E et al.

Clinical Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."