Associated Papers
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Johannesen KM et al.
The Journal of Clinical Investigation, 2026
41289009 (PubMed )
Supplement: jci-136-189830-s246.xlsx › ACMG_classifications
Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.
Hernandez CC et al.
Eneuro, 0
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