Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R401L
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RYR1

NM_000540.3:p.R401L

Associated Papers

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.

Lunke S et al.

Nature Medicine, 2025

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

Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.

Hernández Trapero R et al.

Human Mutation, 2025

41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants

Genetic epidemiology of malignant hyperthermia in the UK.

Miller DM et al.

British Journal of Anaesthesia, 2018

A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia.

Ginz HF et al.

Pharmacogenetics and Genomics, 2009

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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."