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Article

Cystic fibrosis carrier screening in a North American population.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2014

Zvereff Val V, Faruki Hawazin, Edwards Marcia, Friedman Kenneth J

Abstract excerpt

PURPOSE: The aim of this study was to compare the mutation frequency distribution for a 32-mutation panel and a 69-mutation panel used for cystic fibrosis carrier screening. Further aims of the study were to examine the race-specific detection rates provided by both panels and to assess the performance of extended panels in large-scale, population-based cystic fibrosis carrier screening. Although genetic...

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Source

Identifiers

PMID: 24357848
DOI: 10.1038/gim.2013.188

Genes

CFTR

Provenance

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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