Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A4894D
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RYR1

NM_000540.3:p.A4894D

Associated Papers

NAD+ dyshomeostasis in RYR1-related myopathies.

Lawal TA et al.

Skeletal Muscle, 2025

40846977 (PubMed )
Supplement: 13395_2025_390_MOESM1_ESM.docx

Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.

Lawal TA et al.

Journal of Neuromuscular Diseases, 2021

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Kushnir A et al.

Acta Neuropathologica, 2020

Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Todd JJ et al.

Journal of Neurology, 2018

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Todd JJ et al.

Frontiers in Neurology, 2018

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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."