Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A1
Variant:p.L339P
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SLC52A1

NM_017986.4:p.L339P

Associated Papers

Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice.

Jin C et al.

Biological & Pharmaceutical Bulletin, 2021

Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology.

Subramanian VS et al.

Nutrition & Metabolism, 2015

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."