Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R367W
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RYR1

NM_000540.3:p.R367W

Associated Papers

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

41327099 (PubMed )
Supplement: 12885_2025_15360_MOESM5_ESM.xlsx › Sheet1

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?

Hanna EM et al.

Plos One, 2025

Using exome data to identify malignant hyperthermia susceptibility mutations.

Gonsalves SG et al.

Anesthesiology, 2013

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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."