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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN5A

Variant:p.M748I

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SCN5A

NM_000335.5:p.M748I

hg38:chr3:38597747 C>A

Associated Papers

Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy.

Graziosi M et al.

Open Heart, 2022

35444050 (PubMed )

Supplement: openhrt-2021-001914supp001.pdf

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