Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.E1784K
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SCN2A

NM_001040142.2:p.E1784K

Associated Papers

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

Diagnosis of epilepsy using an implantable loop recorder in a child with long-QT syndrome type 3.

Takahashi K et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2013

Mutations in cardiac sodium channels: clinical implications.

Liu H et al.

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2003

Genetic Na+ channelopathies and sinus node dysfunction.

Lei M et al.

Progress in Biophysics and Molecular Biology, 0

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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."