Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.C159W
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SLC52A2

NM_001363118.2:p.C159W

Associated Papers

Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy.

Paprocka J et al.

Metabolites, 2025

A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome.

Piecuch AK et al.

The American Journal of Case Reports, 2023

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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."