Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.P2496L
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RYR1

NM_000540.3:p.P2496L

Associated Papers

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Using exome data to identify malignant hyperthermia susceptibility mutations.

Gonsalves SG et al.

Anesthesiology, 2013

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.

Migita T et al.

Journal of Anesthesia, 2009

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

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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."