Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.M520R
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SCN5A

NM_000335.5:p.M520R

Associated Papers

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.

Leong IU et al.

Bmc Medical Genetics, 2015

25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › KCNQ1_All

Congenital long QT syndrome caused by the F275S KCNQ1 mutation: mechanism of impaired channel function.

Li W et al.

Biochemical and Biophysical Research Communications, 2009

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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."