Varaico: Literature-Extracted Genetic Variants

Gene:PDE3A
Variant:p.T445del1
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PDE3A

NM_000921.5:p.T445del1

Associated Papers

Personal Genetic-Hypertension Odyssey From Phenotypes to Genotypes and Targets.

Luft FC

Hypertension (dallas, Tex. : 1979), 2024

Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.

Ercu M et al.

Circulation, 2022

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.

Verberne EA et al.

American Journal of Medical Genetics. Part A, 2022

Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A).

Kim YR et al.

Annals of Human Genetics, 2021

Phosphodiesterase 3A and Arterial Hypertension.

Ercu M et al.

Circulation, 2020

Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.

Li X et al.

Bmc Medical Genetics, 2020

PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.

Lee CG et al.

European Journal of Medical Genetics, 2020

Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation.

Fan P et al.

American Journal of Hypertension, 2020

PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).

Renkema KY et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2018

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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."