Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.L289L
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SLC52A2

NM_001363118.2:p.L289L

Associated Papers

Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.

Sabeghi D et al.

Acta Neurologica Belgica, 2024

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

Manole A et al.

Brain : a Journal of Neurology, 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."