Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S328Y
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GJA1

NM_000165.5:p.S328Y

Associated Papers

Channel Behavior and Voltage Gating of a Cx43 Mutant Simulating Preconditioning.

Ek-Vitorin JF et al.

Bioelectricity, 2023

Connexin Mutations and Hereditary Diseases.

Qiu Y et al.

International Journal of Molecular Sciences, 2022

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Parker LE et al.

Journal of the American Heart Association, 2021

Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models.

Huang GY et al.

Journal of Cardiovascular Disease Research, 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."