Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.W1148*
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ABCA3

NM_001089.3:p.W1148*

Associated Papers

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

Yang X et al.

International Journal of Molecular Sciences, 2023

Systematic review of drug effects in humans and models with surfactant-processing disease.

Klay D et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2018

Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.

Hegde RN et al.

Tissue & Cell, 2017

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

Beers MF et al.

Cell and Tissue Research, 2017

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

Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress.

Yokota T et al.

European Journal of Pediatrics, 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."