Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.E132Q
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TCAP

NM_003673.4:p.E132Q

Associated Papers

TCAP gene is not a common cause of cardiomyopathy in Iranian patients.

Alaei Z et al.

European Journal of Medical Research, 2023

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells.

Turker I et al.

Pacing and Clinical Electrophysiology : Pace, 2020

Molecular mechanisms in cardiomyopathy.

Dadson K et al.

Clinical Science (london, England : 1979), 2017

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA et al.

Genome Biology, 2014

24667040 (PubMed )
Supplement: gb-2014-15-3-r53-S3.pdf

Molecular etiology and pathogenesis of hereditary cardiomyopathy.

Kimura A

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

Evaluation of the titin-cap gene (TCAP) as candidate for dilated cardiomyopathy in Irish wolfhounds.

Philipp U et al.

Animal Biotechnology, 2008

Gene symbol: LDB3.

Arbustini E et al.

Human Genetics, 2007

Gene symbol: LDB3.

Arbustini E et al.

Human Genetics, 2007

Genetics of dilated cardiomyopathy.

Kärkkäinen S et al.

Annals of Medicine, 2007

Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population.

Marziliano N et al.

Molecular Genetics and Metabolism, 2006

Gene symbol: KCNQ1. Disease: LQT1.

Arbustini E et al.

Human Genetics, 2006

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.

Hayashi T et al.

Journal of the American College of Cardiology, 2004

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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."