Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.I79N
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GPR50

NM_004224.3:p.I79N

Associated Papers

Hypertrophic Cardiomyopathy: Genes and Mechanisms.

Chen J et al.

Frontiers in Bioscience (landmark Edition), 2025

Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.

Landim-Vieira M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?

Willott RH et al.

Journal of Molecular and Cellular Cardiology, 2010

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

Structure and evolution of the alternatively spliced fast troponin T isoform gene.

Bucher EA et al.

The Journal of Biological Chemistry, 1999

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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."