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Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.

Laura Canafoglia | Barbara Castellotti | Francesca Ragona | Elena Freri | Tiziana Granata | Luisa Chiapparini | Cinzia Gellera | Vidmer Scaioli | Silvana Franceschetti | Jacopo C DiFrancesco
Seizure | 2019

No abstract available

Pubmed ID: 30660924

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PolyPhen: Polymorphism Phenotyping (tool)

RRID:SCR_013189

Software tool which predicts possible impact of amino acid substitution on structure and function of human protein using straightforward physical and comparative considerations. PolyPhen-2 is new development of PolyPhen tool for annotating coding nonsynonymous SNPs.

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