Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.R76C
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TCAP

NM_003673.4:p.R76C

Associated Papers

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

Alaei Z et al.

European Journal of Medical Research, 2023

Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.

Huang K et al.

Neurogenetics, 2022

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

Ion channelopathies in functional GI disorders.

Beyder A et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2016

The role of the SCN5A-encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders.

Verstraelen TE et al.

Neurogastroenterology and Motility, 2015

Quantification of gastrointestinal sodium channelopathy.

Poh YC et al.

Journal of Theoretical Biology, 2012

Voltage-gated sodium channels: biophysics, pharmacology, and related channelopathies.

Savio-Galimberti E et al.

Frontiers in Pharmacology, 2012

A mutation in telethonin alters Nav1.5 function.

Mazzone A et al.

The Journal of Biological Chemistry, 2008

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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."