Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.Q251*
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SLC52A2

NM_001363118.2:p.Q251*

Associated Papers

Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.

Fennessy JR et al.

Developmental Medicine and Child Neurology, 2025

Diffusion-Weighted Magnetic Resonance Imaging (dMRI) and Cochlear Implant Outcomes in Axonal Auditory Neuropathy: A Case Report.

Rance G et al.

Journal of Clinical Medicine, 2024

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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."