Varaico: Literature-Extracted Genetic Variants

Gene:GABRD
Variant:p.V442I
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GABRD

NM_000815.5:p.V442I

Associated Papers

Algorithmic assessment reveals functional implications of GABRD gene variants linked to idiopathic generalized epilepsy.

Arslan A

The International Journal of Neuroscience, 2025

38289414 (PubMed )
Supplement: supplement_1.zip › S2.xlsx › 82_nsSNPs_ClinVar

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.

Ahring PK et al.

Brain : a Journal of Neurology, 2022

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