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Article

Estimates of penetrance for recurrent pathogenic copy-number variations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2013

Rosenfeld Jill A, Coe Bradley P, Eichler Evan E, Cuckle Howard, Shaffer Lisa G

Abstract excerpt

PURPOSE: Although an increasing number of copy-number variations are being identified as susceptibility loci for a variety of pediatric diseases, the penetrance of these copy-number variations remains mostly unknown. This poses challenges for counseling, both for recurrence risks and prenatal dia...

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Identifiers

PMID: 23258348
DOI: 10.1038/gim.2012.164
PMCID: PMC3664238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23258348-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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