Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.M4880T
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RYR1

NM_000540.3:p.M4880T

Associated Papers

Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.

Hernández Trapero R et al.

Human Mutation, 2025

41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants

Diseases associated with altered ryanodine receptor activity.

Durham WJ et al.

Sub-cellular Biochemistry, 2007

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

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.

Sambuughin N et al.

Anesthesiology, 2005

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

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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."