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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC6A1

Variant:p.L300V

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SLC6A1

NM_003042.4:p.L300V

hg38:chr3:11025821 C>G

Associated Papers

De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient.

Caraballo RH et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

37877664 (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."