Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.F53S
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SLC6A1

NM_003042.4:p.F53S

Associated Papers

Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review.

Trivisano M et al.

Frontiers in Neuroscience, 2023

37700749 (PubMed )
Supplement: Table_1.XLSX › Data

Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders.

Fischer FP et al.

Frontiers in Molecular Biosciences, 2022

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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."