Varaico: Literature-Extracted Genetic Variants

Gene:GABRA4
Variant:p.P266L
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GABRA4

NM_000809.4:p.P266L

Associated Papers

Understanding paralogous epilepsy-associated GABAA receptor variants: Clinical implications, mechanisms, and potential pitfalls.

Kan ASH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

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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