Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.M3999T
Back to variants list

RYR2

NM_001035.3:p.M3999T

Associated Papers

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers.

Mazzanti A et al.

Jama Cardiology, 2022

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."