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Article

Penetrance and the Healthy Elderly.

Genetic testing and molecular biomarkers - 1 Nov 2017

Lacaze Paul, Winship Ingrid, McNeil John

Abstract excerpt

The variable penetrance of pathogenic variants (PVs) represents a major challenge to the field of human genetics, often complicating clinical decision-making and risk management. Nonpenetrance, the detection of PVs in the absence of disease manifestation, is a common phenomenon, yet, we know very little about the underlying factors, which may protect some individuals and not others. Placing a new focus on the...

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Identifiers

PMID: 28876137
DOI: 10.1089/gtmb.2017.0126
PMCID: PMC5695739

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