Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.E690G
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ABCA3

NM_001089.3:p.E690G

Associated Papers

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

Yang X et al.

International Journal of Molecular Sciences, 2023

Structure-Based Understanding of ABCA3 Variants.

Onnée M et al.

International Journal of Molecular Sciences, 2021

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

Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.

Williamson M et al.

Pediatric Pulmonology, 2014

Genetic testing in children with surfactant dysfunction.

Turcu S et al.

Archives of Disease in Childhood, 2013

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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."