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Article

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

BMC bioinformatics - 1 Jan 2011

Capriotti Emidio, Altman Russ B

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21992054
DOI: 10.1186/1471-2105-12-S4-S3
PMCID: PMC3194195

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21992054-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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