Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.K4056N
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RYR2

NM_001035.3:p.K4056N

Associated Papers

Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.

Modena M et al.

Human Genomics, 2024

Structural and functional interactions between the EF hand domain and S2-S3 loop in the type-1 ryanodine receptor ion channel.

Chirasani VR et al.

The Journal of Biological Chemistry, 2024

Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.

Modena M et al.

Molecular Genetics & Genomic Medicine, 2020

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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."