Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.H617Y
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SCN5A

NM_000335.5:p.H617Y

Associated Papers

Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

Van Der Kelen A et al.

Journal of Assisted Reproduction and Genetics, 2025

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.

van Lint FHM et al.

Circulation. Genomic and Precision Medicine, 2019

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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."