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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRA4

Variant:p.F343L

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GABRA4

NM_000809.4:p.F343L

hg38:chr4:46965075 G>T

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

39143639 (PubMed )

De novo GABRG2 mutations associated with epileptic encephalopathies.

Shen D et al.

Brain : a Journal of Neurology, 2017

27864268 (PubMed )

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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."