Varaico: Literature-Extracted Genetic Variants

Gene:LGSN
Variant:p.T287I
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LGSN

NM_016571.3:p.T287I

Associated Papers

Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.

Lin SXN et al.

Brain : a Journal of Neurology, 2024

Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.

Absalom NL et al.

Brain Communications, 2020

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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."