Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.R1521W
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ABCA3

NM_001089.3:p.R1521W

Associated Papers

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

Fleury M et al.

Pediatric Pulmonology, 2025

ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report.

Lei C et al.

Medicine, 2024

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

Xie T et al.

Science Advances, 2022

35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf

Structure-Based Understanding of ABCA3 Variants.

Onnée M et al.

International Journal of Molecular Sciences, 2021

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

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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."