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CFTR structure
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Classroom Contents
Analyzing Historical Mutations in the Cystic Fibrosis Gene - Ambry Genetics
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- 1 Intro
- 2 Goals of this Webinar
- 3 Cystic Fibrosis Transmembrane Conductase Regulator (CFTR)
- 4 Classic Cystic Fibrosis
- 5 CFTR-related disorders
- 6 CFTR structure
- 7 CFTR gene
- 8 Distribution of Mutation
- 9 DeltaF508
- 10 Variant Classification System
- 11 Primary Classification Tools
- 12 International Agency for Research on Cancer
- 13 European Cystic Fibrosis Society
- 14 CFTR2 Project
- 15 American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- 16 Challenge: Variable Presentation
- 17 Challenge: Literature
- 18 Challenge: Internal Data
- 19 AR diseases and population frequencies
- 20 Hardy-Weinberg Law
- 21 CF School recommendations
- 22 In the News
- 23 CFTR Variant Classification At Ambry
- 24 Poster Presentation ACMG 2014
- 25 Methods
- 26 After Analysis
- 27 Take home points
- 28 Thank You!
