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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A2

Variant:p.L344fs

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SLC52A2

NM_001363118.2:p.L344fs

hg38:chr8:144360618 CTG>N

Associated Papers

Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy.

Mei C et al.

Frontiers in Cellular Neuroscience, 2025

40134705 (PubMed )

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