Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.D546G
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SCN5A

NM_000335.5:p.D546G

Associated Papers

CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.

Nicora G et al.

Human Mutation, 2018

Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Marcondes L et al.

Plos One, 2018

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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."