Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.N117S
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ACTA2

NM_001613.4:p.N117S

Associated Papers

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

Mc Glacken-Byrne AB et al.

Bmc Ophthalmology, 2020

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report.

Keravnou A et al.

Bmc Medical Genetics, 2018

ACTA2 mutation and postpartum hemorrhage: a case report.

Cooper K et al.

Bmc Medical Genetics, 2017

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Poninska JK et al.

Journal of Translational Medicine, 2016

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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."