Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.A307V
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ABCA3

NM_001089.3:p.A307V

Associated Papers

Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.

Serra G et al.

Journal of Clinical Medicine, 2025

Neonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report.

Stelzig O et al.

Bmc Pediatrics, 2025

Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.

Xiao GL et al.

World Journal of Pediatrics : Wjp, 2023

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

Xie T et al.

Science Advances, 2022

35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf

Primary Nasal Epithelial Cells as a Surrogate Cell Culture Model for Type-II Alveolar Cells to Study ABCA-3 Deficiency.

Shaw NC et al.

Frontiers in Medicine, 2022

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids.

Tan JK et al.

Pediatric Pulmonology, 2016

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