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Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?
Population frequency has been one of the most widely used criteria to help assign pathogenicity to newly described mitochondrial DNA variants. However, after sequencing this molecule in thousands of healthy individuals, it has been observed that a very large number of genetic variants have a very lo...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9389834/ https://www.ncbi.nlm.nih.gov/pubmed/35986281 http://dx.doi.org/10.1186/s13023-022-02428-0 |