Accurate Prediction of the Functional Significance of Single Nucleotide Polymorphisms and Mutations in the ABCA1 Gene

The human genome contains an estimated 100,000 to 300,000 DNA variants that alter an amino acid in an encoded protein. However, our ability to predict which of these variants are functionally significant is limited. We used a bioinformatics approach to define the functional significance of genetic v...

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Detalles Bibliográficos
Autores principales: Brunham, Liam R, Singaraja, Roshni R, Pape, Terry D, Kejariwal, Anish, Thomas, Paul D, Hayden, Michael R
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1342637/
https://www.ncbi.nlm.nih.gov/pubmed/16429166
http://dx.doi.org/10.1371/journal.pgen.0010083

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1342637/
https://www.ncbi.nlm.nih.gov/pubmed/16429166
http://dx.doi.org/10.1371/journal.pgen.0010083

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