Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.F1203_L1204del2
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ABCA3

NM_001089.3:p.F1203_L1204del2

Associated Papers

Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.

Serra G et al.

Journal of Clinical Medicine, 2025

The biology of the ABCA3 lipid transporter in lung health and disease.

Beers MF et al.

Cell and Tissue Research, 2017

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

Pachajoa H et al.

Journal of Medical Case Reports, 2016

ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl.

Ota C et al.

Pediatric Pulmonology, 2016

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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."