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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC6A6

Variant:p.A294T

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SLC6A6

NM_003043.6:p.A294T

hg38:chr3:14467865 G>A

Associated Papers

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

Ullah M et al.

Jama Ophthalmology, 2026

41343195 (PubMed )

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