Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.P265S
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GJA5

NM_181703.4:p.P265S

Associated Papers

Advances in molecular genetics for pulmonary atresia.

Gao M et al.

Cardiology in the Young, 2017

Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.

Verhagen JM et al.

Molecular Syndromology, 2015

Tetralogy of Fallot and Hypoplastic Left Heart Syndrome - Complex Clinical Phenotypes Meet Complex Genetic Networks.

Lahm H et al.

Current Genomics, 2015

Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.

Peeters U et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2015

Mutations in cardiovascular connexin genes.

Molica F et al.

Biology of the Cell, 2014

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Digilio MC et al.

European Journal of Medical Genetics, 2013

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.

Guida V et al.

European Journal of Human Genetics : Ejhg, 2013

Role of connexins in human congenital heart disease: the chicken and egg problem.

Salameh A et al.

Frontiers in Pharmacology, 2013

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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."