Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.R484C
Back to variants list

CTNNA3

NM_013266.4:p.R484C

Associated Papers

Infanticide vs. inherited cardiac arrhythmias.

Brohus M et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021

33200177 (PubMed )
Supplement: euaa272_supplementary_appendix.docx

Genome-Wide Association Identifies Risk Pathways for SAPHO Syndrome.

Cai R et al.

Frontiers in Cell and Developmental Biology, 2021

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.

Chen L et al.

International Journal of Cardiology, 2019

Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Bagyinszky E et al.

Neuropsychiatric Disease and Treatment, 2019

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."