Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.C2436F
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RYR1

NM_000540.3:p.C2436F

Associated Papers

Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002.

Sei Y et al.

Anesthesiology, 2004

Screening for mutations in the RYR1 gene in families with malignant hyperthermia.

Muniz VP et al.

Journal of Molecular Neuroscience : Mn, 2003

Genetics and pathogenesis of malignant hyperthermia.

Jurkat-Rott K et al.

Muscle & Nerve, 2000

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

Brandt A et al.

Human Molecular Genetics, 1999

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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."