Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.Q234*
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SLC52A2

NM_001363118.2:p.Q234*

Associated Papers

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.

Shi K et al.

Bmc Medical Genetics, 2019

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

Manole A et al.

Brain : a Journal of Neurology, 2017

29053833 (PubMed )
Supplement: manole_et_al_si_300817this_3008_awx231.pdf

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR et al.

Brain : a Journal of Neurology, 2014

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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."