Every CFTR variant counts – Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry-Reference-Cited by-同舟云学术

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Every CFTR variant counts – Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry

Published:2023-10 Issue: Volume: Page:
ISSN:1569-1993
Container-title:Journal of Cystic Fibrosis
language:en
Short-container-title:Journal of Cystic Fibrosis

Author:

Ahting Simone^ORCID,Nährlich Lutz^ORCID,Held Inka,Henn Constance,Krill Angelika,Landwehr Kerstin,Meister Jochen,Nährig Susanne^ORCID,Nolde Anna,Remke Katharina,Ruppel Renate,Sauer-Heilborn Annette,Schebek Martin,Schopper Gudrun,Schulte-Hubbert Bernhard^ORCID,Schwarz Carsten,Smaczny Christina,Wege Sabine,Hentschel Julia^ORCID

Funder

Vertex Pharmaceuticals Inc

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Reference37 articles.

1. German Cystic Fibrosis Registry: Annual Report 2021;Nährlich,2022

2. ClinVar: improving access to variant interpretations and supporting evidence;Landrum;Nucleic Acids Res,2018

3. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis;Welsh;Cell,1993

4. Progress in therapies for cystic fibrosis;de;Lancet Respir Med,2016

5. ECFS standards of care on CFTR-related disorders: updated diagnostic criteria;Castellani;J Cyst Fibros,2022

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR-TIPS;International Journal of Molecular Sciences;2024-08-05

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