Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.L303V
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ABCA3

NM_001089.3:p.L303V

Associated Papers

Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.

Fleury M et al.

Pediatric Pulmonology, 2025

Cryo-EM structures of the human surfactant lipid transporter ABCA3.

Xie T et al.

Science Advances, 2022

35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf

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

Beers MF et al.

Cell and Tissue Research, 2017

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

Flamein F et al.

Human Molecular Genetics, 2012

The extreme C terminus of the ABC protein DrrA contains unique motifs involved in function and assembly of the DrrAB complex.

Zhang H et al.

The Journal of Biological Chemistry, 2010

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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."