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Updated: Jan 27, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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

Simon Lamquet1, Eliana M Ramos2, Andrea Legati2

  • 1Department of Neurology Ghent University Hospital Ghent Belgium.

Annals of Clinical and Translational Neurology
|March 27, 2019
PubMed

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