Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E675Splc
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SCN5A

NM_000335.5:p.E675Splc

Associated Papers

ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.

O'Neill MJ et al.

Nature Communications, 2024

Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.

Tse G et al.

Frontiers in Physiology, 2020

Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.

Mak CM et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2018

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