Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E292V
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CFTR

NM_000492.4:p.E292V

Associated Papers

Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?

Bush A

Paediatric Respiratory Reviews, 2024

Towards personalized therapies for genetic disorders of surfactant dysfunction.

Peers de Nieuwburgh M et al.

Seminars in Fetal & Neonatal Medicine, 2023

ABCA3 gene mutations shape the clinical profiles of severe unexplained respiratory distress syndrome in late preterm and term infants.

Wang J et al.

Translational Pediatrics, 2021

Genetic causes of surfactant protein abnormalities.

Nogee LM

Current Opinion in Pediatrics, 2019

Genetics of pediatric interstitial lung disease.

Nogee LM

Current Opinion in Pediatrics, 2006

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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."