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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Capriotti, Emidio, Altman, Russ B
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3194195/
https://ncbi.nlm.nih.gov/pubmed/21992054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-12-S4-S3
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