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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A3

Variant:p.Y324C

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SLC52A3

NM_033409.4:p.Y324C

hg38:chr20:763600 T>C

Associated Papers

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.

Tranel ES et al.

Molecular Genetics and Metabolism Reports, 2024

38469093 (PubMed )

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