Varaico: Literature-Extracted Genetic Variants

Gene:PDE3A
Variant:p.T445S
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PDE3A

NM_000921.5:p.T445S

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

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

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

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

Fan P et al.

American Journal of Hypertension, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

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

Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly.

Toka O et al.

Hypertension (dallas, Tex. : 1979), 2015

PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

Maass PG et al.

Nature Genetics, 2015

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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."