Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G2434E
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RYR1

NM_000540.3:p.G2434E

Associated Papers

Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.

Curran JL et al.

British Journal of Anaesthesia, 1999

A novel process for mutation detection using uracil DNA-glycosylase.

Vaughan P et al.

Nucleic Acids Research, 1998

Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.

Fagerlund TH et al.

Clinical Genetics, 1996

Genotype and phenotype relationships for mutations in the ryanodine receptor in patients referred for diagnosis of malignant hyperthermia.

Fletcher JE et al.

British Journal of Anaesthesia, 1995

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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."