Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R492H
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RYR1

NM_000540.3:p.R492H

Associated Papers

Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.

Wang HJ et al.

Nature Communications, 2020

33037202 (PubMed )
Supplement: 41467_2020_18865_MOESM7_ESM.zip › Manuscript_Source_Data › Others › Supplemental_Table_Patients.xlsx › Patient_Database

Investigating the genetic susceptibility to exertional heat illness.

Gardner L et al.

Journal of Medical Genetics, 2020

Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Fiszer D et al.

Anesthesiology, 2015

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf
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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."