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Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides
BACKGROUND: Several methods have been developed to predict the pathogenicity of missense mutations but none has been specifically designed for classification of variants in mtDNA-encoded polypeptides. Moreover, there is not available curated dataset of neutral and damaging mtDNA missense variants to...
Autores principales: | Martín-Navarro, Antonio, Gaudioso-Simón, Andrés, Álvarez-Jarreta, Jorge, Montoya, Julio, Mayordomo, Elvira, Ruiz-Pesini, Eduardo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341421/ https://www.ncbi.nlm.nih.gov/pubmed/28270093 http://dx.doi.org/10.1186/s12859-017-1562-7 |
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