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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC6A1

Variant:p.A541V

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SLC6A1

NM_003042.4:p.A541V

hg38:chr3:11034625 C>T

Associated Papers

Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case series.

Melikishvili G et al.

Epilepsia Open, 2025

41131961 (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."