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Article

Understanding mutational effects in digenic diseases.

Nucleic acids research - 6 Sept 2017

Gazzo Andrea, Raimondi Daniele, Daneels Dorien, Moreau Yves, Smits Guillaume, Van Dooren Sonia, Lenaerts Tom

Abstract excerpt

To further our understanding of the complexity and genetic heterogeneity of rare diseases, it has become essential to shed light on how combinations of variants in different genes are responsible for a disease phenotype. With the appearance of a resource on digenic diseases, it has become possible to evaluate how digenic combinations differ in terms of the phenotypes they produce. All instances in this resource...

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Identifiers

PMID: 28911095
DOI: 10.1093/nar/gkx557
PMCID: PMC5587785

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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