Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A2
Variant:p.L85R
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SLC1A2

NM_004171.4:p.L85R

Associated Papers

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

Kovermann P et al.

Ebiomedicine, 2025

[A case of developmental epileptic encephalopathy related to SLC1A2 gene variation].

He QQ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024

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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."