Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G2130R
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RYR1

NM_000540.3:p.G2130R

Associated Papers

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Molecular genetic testing to diagnose malignant hyperthermia susceptibility.

Girard T et al.

Journal of Clinical Anesthesia, 2008

Suspected malignant hyperthermia during sevoflurane anesthesia.

Hsu SC et al.

Journal of the Chinese Medical Association : Jcma, 2007

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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."