Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.V332I
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GLRA1

NM_000171.4:p.V332I

Associated Papers

High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.

Charouf D et al.

International Journal of Molecular Sciences, 2024

Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations.

Won D et al.

Frontiers in Neurology, 2020

A child with hyperekplexia and epileptic myoclonus.

Wadi L et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2018

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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."