Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.S873*
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SCN5A

NM_000335.5:p.S873*

Associated Papers

Electrophysiological abnormalities associated with a CACNA1D variant are rescued by AAV6-Cav1.3-C-terminus gene therapy in patient-iPSC-CMs.

Reisqs JB et al.

Biorxiv : the Preprint Server for Biology, 2025

Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants.

Sleiman Y et al.

Stem Cell Research, 2024

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