Varaico: Literature-Extracted Genetic Variants

Gene:NPPA
Variant:p.A117V
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NPPA

NM_006172.4:p.A117V

Associated Papers

The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.

Bukaeva A et al.

International Journal of Molecular Sciences, 2024

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

Silva Cunha P et al.

Frontiers in Cardiovascular Medicine, 2023

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

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

Expression of excitatory amino acid transporter-1 (EAAT-1) in brain macrophages and microglia of patients with prion diseases.

Chrétien F et al.

Journal of Neuropathology and Experimental Neurology, 2004

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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."