Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis
Author:
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health
Reference139 articles.
1. ECFS best practice guidelines: the 2018 revision;Castellani;J Cyst Fibros,2018
2. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening;Munck;J Cyst Fibros,2015
3. HGVS recommendations for the description of sequence variants: 2016 update;den Dunnen;Hum Mutat,2016
4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
5. US CF Foundation J.H.U., The Hospital for Sick Children,. The Clinical and Functional TRanslation of CFTR (CFTR2). 2011. https://cftr2.org/Date accessed: 19/8/2022
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