Varaico: Literature-Extracted Genetic Variants

Gene:GABRD
Variant:p.A3S
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GABRD

NM_000815.5:p.A3S

Associated Papers

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability.

Akkus N et al.

Molecular Genetics & Genomic Medicine, 2026

Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

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

Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.

Yarali O et al.

Journal of Neurogenetics, 2024

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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."