Varaico: Literature-Extracted Genetic Variants

Gene:PPA2
Variant:p.V186M
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PPA2

NM_176869.3:p.V186M

Associated Papers

Nonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease.

Théberge E et al.

Jacc. Case Reports, 2025

40846385 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Alcohol-Induced Sudden Cardiac Death in a Teenager With PPA2 Gene Mutations.

Graham S et al.

The American Journal of Forensic Medicine and Pathology, 2023

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Guimier A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Sudden unexpected death in asymptomatic infants due to PPA2 variants.

Phoon CKL et al.

Molecular Genetics & Genomic Medicine, 2020

Genetic Basis of Severe Childhood-Onset Cardiomyopathies.

Vasilescu C et al.

Journal of the American College of Cardiology, 2018

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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."