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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A1

Variant:p.Q234*

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SLC52A1

NM_017986.4:p.Q234*

hg38:chr17:5033789 G>A

Associated Papers

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR et al.

Brain : a Journal of Neurology, 2014

24253200 (PubMed )

Supplement: supp_awt315_Supplementary_Material.docx

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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."