Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.V337I
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SLC6A1

NM_003042.4:p.V337I

Associated Papers

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 › GnomAD_variants

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
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