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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A2

Variant:p.L149P

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SLC52A2

NM_001363118.2:p.L149P

hg38:chr8:144359938 T>C

Associated Papers

Ocular Biomarkers of Riboflavin Transporter Deficiency.

Bulas S et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2023

35921603 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."