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Article

Genetic screening for low-penetrance variants in protein-coding genes.

Annual review of genomics and human genetics - 1 Jan 2009

Waalen Jill, Beutler Ernest

Abstract excerpt

Genetic testing holds great promise as a screening tool to identify persons at risk for a disease at the presymptomatic stage. However, the complexities of gene-disease associations, even in single-gene diseases, pose important challenges. These challenges include defining the role of screening f...

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PMID: 19715441
DOI: 10.1146/annurev.genom.9.081307.164255

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19715441-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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