Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.V2102L
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RYR1

NM_000540.3:p.V2102L

Associated Papers

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.

Sarkozy A et al.

Neurology, 2023

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Lawal TA et al.

Orphanet Journal of Rare Diseases, 2020

Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.

Schiemann AH et al.

British Journal of Anaesthesia, 2013

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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."