Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.H464Q
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RYR2

NM_001035.3:p.H464Q

Associated Papers

Investigating cardiac genetic background in sudden infant death syndrome (SIDS).

Cazzato F et al.

International Journal of Legal Medicine, 2024

38849547 (PubMed )
Supplement: 414_2024_3264_MOESM1_ESM.xlsx › Foglio1

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Robyns T et al.

European Journal of Human Genetics : Ejhg, 2017

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

Belkaya S et al.

Journal of the American College of Cardiology, 2017

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Sanchez O et al.

Plos One, 2016

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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."