Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.T1114A
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ABCA3

NM_001089.3:p.T1114A

Associated Papers

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

Yang X et al.

International Journal of Molecular Sciences, 2023

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

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

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."