Varaico: Literature-Extracted Genetic Variants

Gene:GRIA1
Variant:p.I627T
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GRIA1

NM_000827.4:p.I627T

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

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR et al.

Nature Neuroscience, 2017

28628100 (PubMed )
Supplement: NIHMS879641-supplement-1.pdf
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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."