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Article

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk.

Genes - 8 May 2020

Limongelli Giuseppe, Nunziato Marcella, Mazzaccara Cristina, Intrieri Mariano, DArgenio Valeria, Esposito Maria Valeria, Monda Emanuele, Maggio Federica Di, Frisso Giulia, Salvatore Francesco

Abstract excerpt

The purpose of this paper is to present a clinical and laboratory study of a family, in which a 12-year-old boy was examined to assess his health status before starting competitive sports. A variety of clinical and instrumental tests were used to evaluate the status of the heart and its functions. Using Sanger sequencing (SS), we sequenced six related genes to verify suspected arrhythmogenic right ventricular...

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Identifiers

PMID: 32397162
DOI: 10.3390/genes11050524
PMCID: PMC7288460

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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