Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.W431*
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SLC52A3

NM_033409.4:p.W431*

Associated Papers

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

Manole A et al.

Brain : a Journal of Neurology, 2017

Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.

Cosgrove J et al.

Clinical Neurology and Neurosurgery, 2015

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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."