Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.A197V
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SCN1B

NM_001037.5:p.A197V

Associated Papers

Brugada Syndrome: Different Experimental Models and the Role of Human Cardiomyocytes From Induced Pluripotent Stem Cells.

Li Y et al.

Journal of the American Heart Association, 2022

Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.

Blandin CE et al.

Cells, 2021

Pathogenesis and drug response of iPSC-derived cardiomyocytes from two Brugada syndrome patients with different Na v1.5-subunit mutations.

Zhu Y et al.

Journal of Biomedical Research, 2021

Brugada Syndrome Caused by Sodium Channel Dysfunction Associated with a SCN1B Variant A197V.

Wang L et al.

Archives of Medical Research, 2020

Voltage-Gated Sodium Channel β1 Gene: An Overview.

Al-Ward H et al.

Human Heredity, 2020

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants.

Gray B et al.

Heart Rhythm, 2018

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser NS et al.

Molecular Genetics & Genomic Medicine, 2018

29368431 (PubMed )
Supplement: MGG3-6-200-s002.xlsx › Supplemental_Table_2
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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."