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t/gene-ryr1

RYR1 gene

Discuss publications and research concerning the RYR1 gene.

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Related literature

Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.
RYR1
Considerations for diverse RYR1 variants in malignant hyperthermia susceptible patients: a report of two cases.
RYR1
Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population.
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Drosophila ryanodine receptor gene triggers functional and developmental muscle properties and could be used to assess the impact of human RYR1 mutations.
RYR1
Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.
RYR1
A Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia.
RYR1
Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.
RYR1
Identification of a novel de novo RYR1 variant associated with malignant hyperthermia : A case report.
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King-Denborough Syndrome-Dysmorphic Features Suggesting Risk of Malignant Hyperthermia.
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Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
RYR1

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