Varaico: Literature-Extracted Genetic Variants

Gene:GABRE
Variant:p.Y133*
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GABRE

NM_004961.4:p.Y133*

Associated Papers

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

Markus F et al.

Molecular Genetics & Genomic Medicine, 2020

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

Hauer NN et al.

European Journal of Human Genetics : Ejhg, 2019

30809043 (PubMed )
Supplement: 41431_2019_362_MOESM2_ESM.xlsx › Combined_Scoring
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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."