Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.Q565_R566Splc
Back to variants list

SLC6A1

NM_003042.4:p.Q565_R566Splc

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

Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.

Kahen A et al.

Journal of Medical Genetics, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."