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Amino Acid Changes in Disease-Associated Variants Differ Radically from Variants Observed in the 1000 Genomes Project Dataset

The 1000 Genomes Project data provides a natural background dataset for amino acid germline mutations in humans. Since the direction of mutation is known, the amino acid exchange matrix generated from the observed nucleotide variants is asymmetric and the mutabilities of the different amino acids ar...

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Detalles Bibliográficos
Autores principales: de Beer, Tjaart A. P., Laskowski, Roman A., Parks, Sarah L., Sipos, Botond, Goldman, Nick, Thornton, Janet M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861039/
https://www.ncbi.nlm.nih.gov/pubmed/24348229
http://dx.doi.org/10.1371/journal.pcbi.1003382