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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A3

Variant:p.A401_S402insFs

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SLC52A3

NM_033409.4:p.A401_S402insFs

hg38:chr20:761233 G>GA

Associated Papers

A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family.

Bandettini di Poggio M et al.

European Journal of Neurology, 2013

23750839 (PubMed )

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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."