Varaico: Literature-Extracted Genetic Variants

Gene:NPPA
Variant:p.S64R
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NPPA

NM_006172.4:p.S64R

Associated Papers

Genetics and Pharmacogenetics of Atrial Fibrillation: A Mechanistic Perspective.

Owais A et al.

Jacc. Basic to Translational Science, 2024

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy.

Silva Cunha P et al.

Frontiers in Cardiovascular Medicine, 2023

PITX2 gain-of-function mutation associated with atrial fibrillation alters mitochondrial activity in human iPSC atrial-like cardiomyocytes.

Benzoni P et al.

Frontiers in Physiology, 2023

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-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S2.xlsx › Supplementary_Table_2

Mutant ANP induces mitochondrial and ion channel remodeling in a human iPSC-derived atrial fibrillation model.

Ly OT et al.

Jci Insight, 2022

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

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 › list_of_307_variants_

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Mutation in NPPA causes atrial fibrillation by activating inflammation and cardiac fibrosis in a knock-in rat model.

Cheng C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Atrial fibrillation and NPPA gene p.S64R mutation: are cardiologists helpless spectators of healthy mutation carriers?

Disertori M et al.

Journal of Cardiovascular Medicine (hagerstown, Md.), 2016

Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.

Weeke P et al.

Circulation. Cardiovascular Genetics, 2015

Atrial fibrillation: the role of common and rare genetic variants.

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A.

Disertori M et al.

Circulation. Cardiovascular Genetics, 2013

Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation.

Ritchie MD et al.

Journal of the American College of Cardiology, 2012

The genetics of atrial fibrillation.

Sabeh MK et al.

Current Opinion in Cardiology, 2010

Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation.

Abraham RL et al.

Journal of Molecular and Cellular Cardiology, 2010

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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."