Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R114H
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RYR1

NM_000540.3:p.R114H

Associated Papers

A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.

Michelini S et al.

Journal of Personalized Medicine, 2022

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

Fridriksdottir R et al.

European Journal of Human Genetics : Ejhg, 2021

34462577 (PubMed )
Supplement: 41431_2021_954_MOESM1_ESM.xlsx › RYR1_MAF_0.1_

Genomic Profiling of Biliary Tract Cancer Cell Lines Reveals Molecular Subtypes and Actionable Drug Targets.

Lau DK et al.

Iscience, 2019

31731200 (PubMed )
Supplement: mmc2.xlsx › Sequencing.data

Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.

Li W et al.

Forensic Science, Medicine, and Pathology, 2017

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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."