Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L997del1
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CFTR

NM_000492.4:p.L997del1

Associated Papers

Magnetic Resonance Imaging Detects Progression of Lung Disease and Impact of Newborn Screening in Preschool Children with Cystic Fibrosis.

Stahl M et al.

American Journal of Respiratory and Critical Care Medicine, 2021

34283704 (PubMed )
Supplement: stahl_data_supplement.pdf

Comparison of Lung Clearance Index and Magnetic Resonance Imaging for Assessment of Lung Disease in Children with Cystic Fibrosis.

Stahl M et al.

American Journal of Respiratory and Critical Care Medicine, 2017

27575911 (PubMed )
Supplement: stahl_data_supplement.pdf

Magnetic resonance imaging detects changes in structure and perfusion, and response to therapy in early cystic fibrosis lung disease.

Wielpütz MO et al.

American Journal of Respiratory and Critical Care Medicine, 2014

24564281 (PubMed )
Supplement: wielputz_data_supplement.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."