Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.V419M
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SLC52A3

NM_033409.4:p.V419M

Associated Papers

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.

Marioli C et al.

International Journal of Molecular Sciences, 2020

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Manole A et al.

Brain : a Journal of Neurology, 2017

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Rizzo F et al.

Scientific Reports, 2017

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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."