CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Joshua L. Deignan, Caroline Astbury, Garry R. Cutting, Daniela del Gaudio, Anthony R. Gregg, Wayne W. Grody, Kristin G. Monaghan, Sue Richards
Topics & Concepts
Medical geneticsGenomicsGeneticsPhenotypeNewborn screeningGenetic testingCystic fibrosisMedicineMolecular geneticsBiologyComputational biologyBioinformaticsGeneGenomeCystic Fibrosis Research AdvancesCongenital Ear and Nasal AnomaliesTracheal and airway disorders