Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.L344delFs
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SLC52A2

NM_001363118.2:p.L344delFs

Associated Papers

Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.

Tolomeo M et al.

Archives of Biochemistry and Biophysics, 2026

Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy.

Mei C et al.

Frontiers in Cellular Neuroscience, 2025

Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons

Marioli C et al.

Cell Death Discovery, 2024

Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.

Magliocca V et al.

Frontiers in Cellular Neuroscience, 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."