Article

Mitochondrial pathogenic variants in Whole Exome Sequencing data: from screening to diagnosis and follow-up

2024-11-15

Abstract excerpt

<title>Abstract</title> <p>Mutations in mitochondrial DNA play a crucial role in several diseases, but interpreting the clinical significance of mitochondrial DNA variants is challenging due to heteroplasmy, age-related loss of variants and evolving phenotypes. The aim of study was to identify mitochondrial pathogenic variants and look for association correlations with specific phenotypes for both known and new v...

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Literature Corpus work: 80535c18-9d79-5d11-b17b-3ee48628040b
DOI: 10.21203/rs.3.rs-5322862/v1

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