Varaico: Literature-Extracted Genetic Variants

Gene:GABRA6
Variant:p.Q237R
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GABRA6

NM_000811.3:p.Q237R

Associated Papers

Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.

Bedics G et al.

Scientific Reports, 2023

37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2

Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Al Anazi AH et al.

Human Genomics, 2022

36539902 (PubMed )
Supplement: 40246_2022_444_MOESM2_ESM.xlsx › Epilepsy_Uncertain_variants

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL21__PON_in_red_

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

Hernandez CC et al.

Plos One, 2016

Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

Hernandez CC et al.

Plos One, 0

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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."