Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.G124_S126del3
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SLC20A2

NM_001257180.2:p.G124_S126del3

Associated Papers

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.

Lamquet S et al.

Annals of Clinical and Translational Neurology, 2019

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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."