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Article

Human monogenic disease genes have frequently functionally redundant paralogs.

PLoS computational biology - 1 Jan 2013

Chen Wei-Hua, Zhao Xing-Ming, van Noort Vera, Bork Peer

Abstract excerpt

Mendelian disorders are often caused by mutations in genes that are not lethal but induce functional distortions leading to diseases. Here we study the extent of gene duplicates that might compensate genes causing monogenic diseases. We provide evidence for pervasive functional redundancy of human monogenic disease genes (MDs) by duplicates by manifesting 1) genes involved in human genetic disorders are enriched...

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Identifiers

PMID: 23696728
DOI: 10.1371/journal.pcbi.1003073
PMCID: PMC3656685

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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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