Varaico: Literature-Extracted Genetic Variants

Gene:PPA2
Variant:p.E97G
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PPA2

NM_176869.3:p.E97G

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

Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families.

Gómez González C et al.

Gene, 2024

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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."