Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.G1518insFs
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ABCA3

NM_001089.3:p.G1518insFs

Associated Papers

Structure-Based Understanding of ABCA3 Variants.

Onnée M et al.

International Journal of Molecular Sciences, 2021

34638622 (PubMed )
Supplement: ijms-22-10282-s001.zip › Supplementary_Tables_IJMS.pdf

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

Beers MF et al.

Cell and Tissue Research, 2017

Genetic risk factors associated with respiratory distress syndrome.

Jo HS

Korean Journal of Pediatrics, 2014

Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.

Matsumura Y et al.

The Journal of Biological Chemistry, 2006

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Shulenin S et al.

The New England Journal of Medicine, 2004

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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."