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Article

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.

Human molecular genetics - 1 Feb 2017

Spataro Nino, Rodríguez Juan Antonio, Navarro Arcadi, Bosch Elena

Abstract excerpt

Do genes presenting variation that has been linked to human disease have different biological properties than genes that have never been related to disease? What is the relationship between disease and fitness? Are the evolutionary pressures that affect genes linked to Mendelian diseases the same to those acting on genes whose variation contributes to complex disorders? The answers to these questions could shed...

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Identifiers

PMID: 28053046
DOI: 10.1093/hmg/ddw405
PMCID: PMC5409085

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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