Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.C2363C
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RYR1

NM_000540.3:p.C2363C

Associated Papers

An autopsy case of rhabdomyolysis related to vegetamin and genetic analysis of the rhabdomyolysis-associated genes.

Matsusue A et al.

Journal of Forensic and Legal Medicine, 2010

Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.

Zullo A et al.

Human Mutation, 2009

A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.

Jeong SK et al.

Journal of Clinical Neurology (seoul, Korea), 2008

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Galli L et al.

Human Mutation, 2006

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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."