Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G2375R
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RYR1

NM_000540.3:p.G2375R

Associated Papers

Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.

Rossi D et al.

Neuromuscular Disorders : Nmd, 2026

Genetic Characteristics of Brazilian Patients with MH History.

Silva HCA et al.

Genes, 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

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.

Murayama T et al.

Human Mutation, 2016

Simultaneous malignant hyperthermia reactions in two siblings during living donor liver transplantation.

Majeed A et al.

Anaesthesia Reports, 0

Novel ryanodine receptor 1 (RYR1) missense gene variants in two pet dogs with fatal malignant hyperthermia identified by next-generation sequencing.

Perez Jimenez TE et al.

Veterinary Anaesthesia and Analgesia, 0

Association between joint dislocation and malignant hyperthermia.

Gomes AO et al.

Anaesthesia Reports, 0

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