Varaico: Literature-Extracted Genetic Variants

Gene:NPPA
Variant:p.I138T
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NPPA

NM_006172.4:p.I138T

Associated Papers

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

Silva Cunha P et al.

Frontiers in Cardiovascular Medicine, 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

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

Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population.

Ren X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."