Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.A509_G510Splc
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SLC6A1

NM_003042.4:p.A509_G510Splc

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

Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.

Bain JM et al.

Journal of Neurodevelopmental Disorders, 2022

35761184 (PubMed )
Supplement: 11689_2022_9449_MOESM1_ESM.xlsx › Sheet1

Current knowledge of SLC6A1-related neurodevelopmental disorders.

Goodspeed K et al.

Brain Communications, 2020

33241211 (PubMed )
Supplement: fcaa170_supplementary_data.zip › fcaa170_Supplementary_Data.xlsx › Data

Defining the phenotypic spectrum of SLC6A1 mutations.

Johannesen KM et al.

Epilepsia, 2018

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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."