Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.E292K
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ABCA3

NM_001089.3:p.E292K

Associated Papers

Lentiviral-mediated gene complementation rescues pathogenic ABCA3 variants.

Cooney AL et al.

Biorxiv : the Preprint Server for Biology, 2025

Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.

Yang X et al.

International Journal of Molecular Sciences, 2023

Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.

Matsumura Y et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2008

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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."