Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment

Author:

Raraigh Karen S,Aksit Melis A,Hetrick Kurt,Pace Rhonda G,Ling Hua,O'Neal Wanda,Blue Elizabeth,Zhou Yi-Hui,Bamshad Michael J,Blackman Scott M,Gibson Ronald L,Knowles Michael R,Cutting Garry R

Funder

Cystic Fibrosis Foundation

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health

Reference35 articles.

1. Identification of the cystic fibrosis gene: genetic analysis;Kerem;Science,1989

2. Cystic fibrosis;Ratjen;Nat Rev Dis Primers,2015

3. Diagnosis of Cystic Fibrosis: consensus Guidelines from the Cystic Fibrosis Foundation;Farrell;J Pediatr,2017

4. Molecular Diagnosis of Cystic Fibrosis;Deignan;Curr Protoc Hum Genet,2016

5. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene;Sosnay;Nat Genet,2013

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