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Article

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders

25 Jan 2018

Abstract excerpt

The existence of epistasis in humans was first predicted by Bateson in 1909. Epistasis describes the non-linear, synergistic interaction of two or more genetic loci, which can substantially modify disease severity or result in entirely new phenotypes. The concept has remained controversial in human genetics because of the lack of well characterized examples. In humans it is only possible to demonstrate epistasis...

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PMID: 29434582
DOI: 10.3389/fimmu.2017.01965

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