Gene symbol: RYR1. Disease: malignant hyperthermia

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

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Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis.

Acta clinica Belgica·2015

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

British journal of cancer·2015

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International journal of immunogenetics·2015

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American journal of medical genetics. Part A·2014

Fingerprinting plant genomes with oligonucleotide probes specific for simple repetitive DNA sequences.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2013

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α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

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The Journal of the American Academy of Orthopaedic Surgeons·2026

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African health sciences·2026

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Frontiers in medicine·2026

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Related Experiment Videos

Gene symbol: RYR1. Disease: malignant hyperthermia

Related Concept Videos

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort.

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

Fingerprinting plant genomes with oligonucleotide probes specific for simple repetitive DNA sequences.

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea.

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.

A Review of Physiological Measurements Among Patients Diagnosed With Complex Regional Pain Syndrome.

Treatment methods and recurrence rates in primary spontaneous pneumothorax: a 10-year retrospective study.

Donor-size-normalized tidal volume and early peak airway pressure-derived pressure burden after lung transplantation: an exploratory single-center cohort study.

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Gene symbol: RYR1. Disease: malignant hyperthermia

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