Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.R535C
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CTNNA3

NM_013266.4:p.R535C

Associated Papers

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.

Miroševič Š et al.

International Journal of Molecular Sciences, 2022

Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease.

Terhune EA et al.

Genes, 2021

34208743 (PubMed )
Supplement: genes-12-00922-s001.zip › genes-1246102-supplementary-final › File_S2.pdf

Reduced desmoplakin immunofluorescence signal in arrhythmogenic cardiomyopathy with epicardial right ventricular outflow tract tachycardia.

Rosset S et al.

Heartrhythm Case Reports, 2019

Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy.

Christensen AH et al.

Genetic Testing and Molecular Biomarkers, 2011

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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."