Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR2
Variant:p.R511H
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PHACTR2

NM_001100164.2:p.R511H

Associated Papers

A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans.

Majdalani P et al.

International Journal of Molecular Sciences, 2023

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

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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."