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Article

The modular nature of genetic diseases.

Clinical genetics - 1 Jan 2007

Oti M, Brunner H G

Abstract excerpt

Evidence from many sources suggests that similar phenotypes are begotten by functionally related genes. This is most obvious in the case of genetically heterogeneous diseases such as Fanconi anemia, Bardet-Biedl or Usher syndrome, where the various genes work together in a single biological module. Such modules can be a multiprotein complex, a pathway, or a single cellular or subcellular organelle. This...

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PMID: 17204041
DOI: 10.1111/j.1399-0004.2006.00708.x

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

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