Varaico: Literature-Extracted Genetic Variants

Gene:GABRG1
Variant:p.F343L
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GABRG1

NM_173536.4:p.F343L

Associated Papers

GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.

Li X et al.

Journal of Translational Medicine, 2024

Pathogenicity Prediction of GABAA Receptor Missense Variants.

Wang YJ et al.

Biorxiv : the Preprint Server for Biology, 2023

De novo GABRG2 mutations associated with epileptic encephalopathies.

Shen D et al.

Brain : a Journal of Neurology, 2017

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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."