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Article

Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights.

Human mutation - 1 Mar 2017

Ittisoponpisan Sirawit, Alhuzimi Eman, Sternberg Michael J E, David Alessia

Abstract excerpt

Pleiotropy is the phenomenon by which the same gene can result in multiple phenotypes. Pleiotropic proteins are emerging as important contributors to rare and common disorders. Nevertheless, little is known on the mechanisms underlying pleiotropy and the characteristic of pleiotropic proteins. We analyzed disease-causing proteins reported in UniProt and observed that 12% are pleiotropic (variants in the same...

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Identifiers

PMID: 27957775
DOI: 10.1002/humu.23155
PMCID: PMC5748329

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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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