Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A612T
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RYR1

NM_000540.3:p.A612T

Associated Papers

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

HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review.

Kruijt N et al.

Neuromuscular Disorders : Nmd, 2020

Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers.

Matsusue A et al.

Legal Medicine (tokyo, Japan), 2011

Postmortem molecular screening for mutations in ryanodine receptor type 1 (RYR1) gene in psychiatric patients suspected of having died of neuroleptic malignant syndrome.

Sato T et al.

Forensic Science International, 2010

Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C).

Yeh HM et al.

Anesthesia and Analgesia, 2005

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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."