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...

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Detalles Bibliográficos
Autores principales: Bayona-Bafaluy, M. Pilar, López-Gallardo, Ester, Emperador, Sonia, Pacheu-Grau, David, Montoya, Julio, Ruiz-Pesini, Eduardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Letter to the Editor
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

Internet

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

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