Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.Q3955K
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RYR2

NM_001035.3:p.Q3955K

Associated Papers

Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

Chang Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Austin R et al.

Genetics in Medicine Open, 2024

39669597 (PubMed )
Supplement: mmc2.xlsx › Supp_tab_6
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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."