Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R2454G
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RYR1

NM_000540.3:p.R2454G

Associated Papers

Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.

Miyoshi H et al.

Genes, 2025

40869992 (PubMed )
Supplement: genes-16-00944-s001.zip › genes-3772861-supplementary.xlsx › S1_RYR1_and_CACNA1S_variants

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

An E321G MYH1 mutation is strongly associated with nonexertional rhabdomyolysis in Quarter Horses.

Valberg SJ et al.

Journal of Veterinary Internal Medicine, 2018

Nonanesthetic malignant hyperthermia.

Lehmann-Horn F et al.

Anesthesiology, 2011

Comparative and veterinary pharmacogenomics.

Mosher CM et al.

Handbook of Experimental Pharmacology, 2010

A review of equine muscle disorders.

Aleman M

Neuromuscular Disorders : Nmd, 2008

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

Aleman M et al.

Muscle & Nerve, 2004

Malignant hyperthermia associated with ryanodine receptor 1 (C7360G) mutation in Quarter Horses.

Aleman M et al.

Journal of Veterinary Internal Medicine, 0

A rapid detection method for the ryanodine receptor 1 (C7360G) mutation in Quarter Horses.

Nieto JE et al.

Journal of Veterinary Internal Medicine, 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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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."