Varaico: Literature-Extracted Genetic Variants

Gene:RYR3
Variant:p.K916T
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RYR3

NM_001036.6:p.K916T

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

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Toyama M et al.

Plos One, 2022

35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

Hammer MF et al.

Plos One, 2017

28686619 (PubMed )
Supplement: pone.0180485.s008.xlsx › Sheet1
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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."