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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC6A1

Variant:p.V284M

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SLC6A1

NM_003042.4:p.V284M

hg38:chr3:11025773 G>A

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

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