Varaico: Literature-Extracted Genetic Variants

Gene:GABRA1
Variant:p.H83R
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GABRA1

NM_001127644.2:p.H83R

Associated Papers

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Maillard PY et al.

Epilepsia, 2022

35718920 (PubMed )
Supplement: EPI-63-2519-s001.xlsx › Feuil1

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

Zhu X et al.

Plos Genetics, 2017

29186148 (PubMed )
Supplement: pgen.1007104.s002.xlsx › S1_Table
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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."