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Article

The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2011

Strom Charles M, Redman Joy B, Peng Mei

Abstract excerpt

PURPOSE: : Recently, a major CLIA-certified commercial laboratory began offering an extended cystic fibrosis (CF) carrier screening panel containing 103 variants including p.L997F. Our laboratory has already received two invasive prenatal diagnostic samples where one parent carries a classic CF mutation and the other carries p.L997F. One fetus inherited both variants. METHODS: : We queried our databases...

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PMID: 21804385
DOI: 10.1097/GIM.0b013e318228efb2

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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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