Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.E436K
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SCN9A

NM_001365536.1:p.E436K

Associated Papers

Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.

Song C et al.

Ophthalmic Genetics, 2025

Genotype phenotype associations across the voltage-gated sodium channel family.

Brunklaus A et al.

Journal of Medical Genetics, 2014

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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."