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Article

Identification of genomic features in the classification of loss- and gain-of-function mutation.

BMC medical informatics and decision making - 1 Jan 2015

Jung Seunghwan, Lee Sejoon, Kim Sangwoo, Nam Hojung

Abstract excerpt

BACKGROUND: Alterations of a genome can lead to changes in protein functions. Through these genetic mutations, a protein can lose its native function (loss-of-function, LoF), or it can confer a new function (gain-of-function, GoF). However, when a mutation occurs, it is difficult to determine whether it will result in a LoF or a GoF. Therefore, in this paper, we propose a study that analyzes the genomic features...

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Identifiers

PMID: 26043747
DOI: 10.1186/1472-6947-15-S1-S6
PMCID: PMC4460711

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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