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Improving the prediction of disease-related variants using protein three-dimensional structure

BACKGROUND: Single Nucleotide Polymorphisms (SNPs) are an important source of human genome variability. Non-synonymous SNPs occurring in coding regions result in single amino acid polymorphisms (SAPs) that may affect protein function and lead to pathology. Several methods attempt to estimate the imp...

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Detalles Bibliográficos
Autores principales:	Capriotti, Emidio, Altman, Russ B
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194195/ https://www.ncbi.nlm.nih.gov/pubmed/21992054 http://dx.doi.org/10.1186/1471-2105-12-S4-S3

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