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Article

Cataloging coding sequence variations in human genome databases.

PloS one - 1 Jan 2008

Won Hong-Hee, Kim Hee-Jin, Lee Kyung-A, Kim Jong-Won

Abstract excerpt

BACKGROUND: With the recent growth of information on sequence variations in the human genome, predictions regarding the functional effects and relevance to disease phenotypes of coding sequence variations are becoming increasingly important. The aims of this study were to catalog protein-coding sequence variations (CVs) occurring in genetic variation databases and to use bioinformatic programs to analyze CVs. In...

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Identifiers

PMID: 18974781
DOI: 10.1371/journal.pone.0003575
PMCID: PMC2570488

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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