Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.M2101L
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RYR1

NM_000540.3:p.M2101L

Associated Papers

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.

Tammaro A et al.

Clinical Genetics, 2011

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Ibarra M CA et al.

Anesthesiology, 2006

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.

Tammaro A et al.

Clinical Chemistry, 2003

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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."