Varaico: Literature-Extracted Genetic Variants

Gene:GABRA4
Variant:p.T300N
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GABRA4

NM_000809.4:p.T300N

Associated Papers

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.

Sajan SA et al.

European Journal of Human Genetics : Ejhg, 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."