Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R14del1
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SCN5A

NM_000335.5:p.R14del1

Associated Papers

Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.

Fan X et al.

Stem Cell Reviews and Reports, 2023

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Josephs KS et al.

Genome Medicine, 2023

37872640 (PubMed )
Supplement: 13073_2023_1246_MOESM2_ESM.docx

The Genetic Evaluation of Dilated Cardiomyopathy.

Bui QM et al.

Structural Heart : the Journal of the Heart Team, 2023

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Josephs KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37066275 (PubMed )
Supplement: media-4.docx

Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization.

Bersell KR et al.

Circulation, 2023

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