Varaico: Literature-Extracted Genetic Variants

Gene:GRIA1
Variant:p.R345Q
Back to variants list

GRIA1

NM_000827.4:p.R345Q

Associated Papers

Targeted Therapy of GRIA1-Related Epilepsy and Intellectual Disability With Perampanel: A Case Report and Literature Review.

Cesaroni E et al.

Neurology. Genetics, 2025

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.

Ismail V et al.

American Journal of Human Genetics, 2022

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."