Varaico: Literature-Extracted Genetic Variants

Gene:GABRA6
Variant:p.V269I
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GABRA6

NM_000811.3:p.V269I

Associated Papers

Modifier genes in SCN1A-related epilepsy syndromes.

de Lange IM et al.

Molecular Genetics & Genomic Medicine, 2020

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Jungwirth G et al.

Acta Neuropathologica Communications, 2019

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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."