Varaico: Literature-Extracted Genetic Variants

Gene:NPPA
Variant:p.V32M
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NPPA

NM_006172.4:p.V32M

Associated Papers

Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?

van Deventer BS et al.

Forensic Science, Medicine, and Pathology, 2025

39900885 (PubMed )
Supplement: 12024_2025_944_MOESM4_ESM.pdf

Genome-wide association study of maternal plasma metabolites during pregnancy.

Liu S et al.

Cell Genomics, 2024

39389015 (PubMed )
Supplement: mmc8.xlsx › Table_S7

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Chen J et al.

Orphanet Journal of Rare Diseases, 2022

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Guelly C et al.

Peerj, 2021

33552729 (PubMed )
Supplement: peerj-09-10711-s004.xlsx › found_rows_58_in_KCG

Mutation Analysis of Colorectal and Gastric Carcinomas Originating from Adenomas: Insights into Genomic Evolution Associated with Malignant Progression.

Lee SH et al.

Cancers, 2020

32023847 (PubMed )
Supplement: cancers-12-00325-s001.zip › cancers-689749-supplement_final › Table_S2.xlsx › TableS3

Association of interactions between dietary salt consumption and hypertension-susceptibility genetic polymorphisms with blood pressure among Japanese male workers.

Imaizumi T et al.

Clinical and Experimental Nephrology, 2017

High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension.

Jones ES et al.

American Journal of Hypertension, 2017

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

Circulating atrial natriuretic peptide genetic association study identifies a novel gene cluster associated with stroke in whites.

Pereira NL et al.

Circulation. Cardiovascular Genetics, 2015

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1

Potential association between frequent nonsynonymous variant of NPPA and cardioembolic stroke.

Kim JH et al.

Dna and Cell Biology, 2012

The genetics of loop diuretic effects.

Vormfelde SV et al.

The Pharmacogenomics Journal, 2012

Population-specific coding variant underlies genome-wide association with adiponectin level.

Croteau-Chonka DC et al.

Human Molecular Genetics, 2012

Evaluation of non-synonymous NPPA single nucleotide polymorphisms in atrial fibrillation.

Roberts JD et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2010

Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.

Paré G et al.

Circulation. Cardiovascular Genetics, 2009

Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure.

Newton-Cheh C et al.

Nature Genetics, 2009

Arterial stiffness, physical activity, and atrial natriuretic Peptide gene polymorphism in older subjects.

Iemitsu M et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2008

Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean population.

Cha SH et al.

Journal of Hypertension, 2007

Investigation of the association between normal-tension glaucoma and single nucleotide polymorphisms in natriuretic peptide gene.

Jeoung JW et al.

Korean Journal of Ophthalmology : Kjo, 2007

Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes.

Kim SH et al.

Molecular Vision, 2006

Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.

Rangaraju A et al.

Indian Pacing and Electrophysiology Journal, 0

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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."