CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal carrier screening by molecular methods. The American College of Medical Genetics and Genomics (ACMG) recommended a...

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Veröffentlicht in:Genet Med
Hauptverfasser: Deignan, Joshua L., Astbury, Caroline, Cutting, Garry R., del Gaudio, Daniela, Gregg, Anthony R., Grody, Wayne W., Monaghan, Kristin G., Richards, Sue
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8268680/
https://ncbi.nlm.nih.gov/pubmed/32404922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0822-5
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