Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.V547A
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RYR1

NM_000540.3:p.V547A

Associated Papers

Detection of the T1640C RYR1 mutation indicating malignant hyperthermia in dogs.

Haluskova J et al.

Veterinarni Medicina, 2023

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Lawal TA et al.

Orphanet Journal of Rare Diseases, 2020

Translating Pharmacogenetics and Pharmacogenomics to the Clinic: Progress in Human and Veterinary Medicine.

Campion DP et al.

Frontiers in Veterinary Science, 2019

Comparative and veterinary pharmacogenomics.

Mosher CM et al.

Handbook of Experimental Pharmacology, 2010

High serum troponin I concentration as a marker of severe myocardial damage in a case of suspected exertional heatstroke in a dog.

Mellor PJ et al.

Journal of Veterinary Cardiology : the Official Journal of the European Society of Veterinary Cardiology, 2006

Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia.

Aleman M et al.

Muscle & Nerve, 2004

Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1).

Roberts MC et al.

Anesthesiology, 2001

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

Sambuughin N et al.

American Journal of Human Genetics, 2001

Evaluation of candidate genes in the absence of positional information: a poor bet on a blind dog!

Aguirre-Hernández J et al.

The Journal of Heredity, 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

Allele Frequencies and Genotypes for the Ryanodine Receptor 1 Variant Causing Malignant Hyperthermia and Fatal Rhabdomyolysis With Hyperthermia in Horses.

Aleman M et al.

Journal of Veterinary Internal Medicine, 0

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