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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRG2

Variant:p.E250Q

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GABRG2

NM_198904.4:p.E250Q

hg38:chr5:162104005 G>C

Associated Papers

Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.

Nguyen YTM et al.

Scientific Reports, 2024

39285222 (PubMed )

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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."