Varaico: Literature-Extracted Genetic Variants

Gene:SLMAP
Variant:p.V269I
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SLMAP

NM_001377540.1:p.V269I

Associated Papers

STRIPAK, a highly conserved signaling complex, controls multiple eukaryotic cellular and developmental processes and is linked with human diseases.

Kück U et al.

Biological Chemistry, 2019

Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.

Seo SH et al.

Annals of Laboratory Medicine, 2018

Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Wu Y et al.

Forensic Sciences Research, 2017

Diseases caused by mutations in Nav1.5 interacting proteins.

Kyle JW et al.

Cardiac Electrophysiology Clinics, 2014

Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.

Jagu B et al.

Frontiers in Physiology, 2013

The genetic component of Brugada syndrome.

Nielsen MW et al.

Frontiers in Physiology, 2013

A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.

Ishikawa T et al.

Circulation. Arrhythmia and Electrophysiology, 2012

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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."