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Article

Highly consistent patterns for inherited human diseases at the molecular level.

Bioinformatics (Oxford, England) - 1 Feb 2006

López-Bigas Núria, Blencowe Benjamin J, Ouzounis Christos A

Abstract excerpt

Over 1600 mammalian genes are known to cause an inherited disorder, when subjected to one or more mutations. These disease genes represent a unique resource for the identification and quantification of relationships between phenotypic attributes of a disease and the molecular features of the associated disease genes, including their ascribed annotated functional classes and expression patterns. Such analyses can...

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PMID: 16287936
DOI: 10.1093/bioinformatics/bti781

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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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