Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.R512*
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SCN10A

NM_006514.4:p.R512*

Associated Papers

Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

Bui QM et al.

Future Cardiology, 2025

40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1

The Potential Effect of Na v 1.8 in Autism Spectrum Disorder: Evidence From a Congenital Case With Compound Heterozygous SCN10A Mutations.

Heinrichs B et al.

Frontiers in Molecular Neuroscience, 2021

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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."