Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.S1116F
Back to variants list

ABCA3

NM_001089.3:p.S1116F

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

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

Xie T et al.

Science Advances, 2022

35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf

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

Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.

Moore GP et al.

American Journal of Respiratory and Critical Care Medicine, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."