Varaico: Literature-Extracted Genetic Variants

Gene:PPA2
Variant:p.R127C
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PPA2

NM_176869.3:p.R127C

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

Long-read sequencing identified a novel nonsense and a de novo missense of PPA2 in trans in a Chinese patient with autosomal recessive infantile sudden cardiac failure.

Zhao A et al.

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