Article
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2020
Deignan Joshua L, Astbury Caroline, Cutting Garry R, Del Gaudio Daniela, Gregg Anthony R, Grody Wayne W, Monaghan Kristin G, Richards Sue
Abstract excerpt
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 core panel of 23 disease-causing variants as the minimal set to be included in pan-ethnic carrier screening of...
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