Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.C2436Y
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RYR1

NM_000540.3:p.C2436Y

Associated Papers

Congenital myopathies at their molecular dawning.

Goebel HH

Muscle & Nerve, 2003

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

Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease.

Tong J et al.

The Journal of Biological Chemistry, 1997

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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."