Varaico: Literature-Extracted Genetic Variants

Gene:PPA2
Variant:p.A130V
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PPA2

NM_176869.3:p.A130V

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

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

Thompson L et al.

Frontiers in Pediatrics, 2024

38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1

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

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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."