Varaico: Literature-Extracted Genetic Variants

Gene:RYR3
Variant:p.R2980L
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RYR3

NM_001036.6:p.R2980L

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

RYR3 Variants Are Potentially Associated With Idiopathic (Non-Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene-Disease Association by Genetic Dependent Nature.

Tian Y et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025

Cryo-EM investigation of ryanodine receptor type 3.

Chen YS et al.

Nature Communications, 2024

39366997 (PubMed )
Supplement: 41467_2024_52998_MOESM1_ESM.pdf

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D et al.

American Journal of Human Genetics, 2019

Novel epilepsy phenotype associated to a known SCN8A mutation.

Epifanio R et al.

Seizure, 2019

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

Nilipour Y et al.

European Journal of Neurology, 2018

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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."