Varaico: Literature-Extracted Genetic Variants

Gene:RYR3
Variant:p.K1239R
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RYR3

NM_001036.6:p.K1239R

Associated Papers

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

New evidence supports RYR3 as a candidate gene for developmental and epileptic encephalopathy.

Li J et al.

Frontiers in Neurology, 2024

Novel West syndrome candidate genes in a Chinese cohort.

Peng J et al.

Cns Neuroscience & Therapeutics, 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."