Varaico: Literature-Extracted Genetic Variants

Gene:GABRD
Variant:p.G389A
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GABRD

NM_000815.5:p.G389A

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

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

Butler KM et al.

Brain : a Journal of Neurology, 2018

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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."