Varaico: Literature-Extracted Genetic Variants

Gene:SLC32A1
Variant:p.V263A
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SLC32A1

NM_080552.3:p.V263A

Associated Papers

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.

Platzer K et al.

Annals of Neurology, 2022

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Heron SE et al.

Neurology, 2021

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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."