Varaico: Literature-Extracted Genetic Variants

Gene:PPA2
Variant:p.W202C
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PPA2

NM_176869.3:p.W202C

Associated Papers

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.

Janin A et al.

Molecular Diagnosis & Therapy, 2022

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."