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Article

The background puzzle: how identical mutations in the same gene lead to different disease symptoms.

The FEBS journal - 1 Oct 2017

Kammenga Jan E

Abstract excerpt

Identical disease-causing mutations can lead to different symptoms in different people. The reason for this has been a puzzling problem for geneticists. Differential penetrance and expressivity of mutations has been observed within individuals with different and similar genetic backgrounds. Attempts have been made to uncover the underlying mechanisms that determine differential phenotypic effects of identical...

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PMID: 28390082
DOI: 10.1111/febs.14080

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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