Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A2
Variant:p.L474Splc
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SLC1A2

NM_004171.4:p.L474Splc

Associated Papers

The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction.

Kovermann P et al.

Ebiomedicine, 2025

The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders.

Alijanpour S et al.

Metabolic Brain Disease, 2023

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.

Wagner M et al.

Neuropediatrics, 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."