Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.G297E
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SLC6A1

NM_003042.4:p.G297E

Associated Papers

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Kowanda M et al.

Genetics in Medicine Open, 2024

39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

Stefanski A et al.

Brain : a Journal of Neurology, 2023

37647852 (PubMed )
Supplement: awad292_supplementary_data.zip › brain-2022-02416-File005.xlsx › Patient_variants
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