Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations

Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do...

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Detalles Bibliográficos
Publicado en:PLoS Genet
Autores principales: Nielsen, Sofie V., Stein, Amelie, Dinitzen, Alexander B., Papaleo, Elena, Tatham, Michael H., Poulsen, Esben G., Kassem, Maher M., Rasmussen, Lene J., Lindorff-Larsen, Kresten, Hartmann-Petersen, Rasmus
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2017
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5415204/
https://ncbi.nlm.nih.gov/pubmed/28422960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006739
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