Varaico: Literature-Extracted Genetic Variants

Gene:PPA1
Variant:p.A167V
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PPA1

NM_021129.4:p.A167V

Associated Papers

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 Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

Kennedy H et al.

American Journal of Human Genetics, 2016

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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."