Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.S693L
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ABCA3

NM_001089.3:p.S693L

Associated Papers

ABCA3-related interstitial lung disease beyond infancy.

Li Y et al.

Thorax, 2023

Structure-Based Understanding of ABCA3 Variants.

Onnée M et al.

International Journal of Molecular Sciences, 2021

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

29997245 (PubMed )
Supplement: ERR-0135-2017_online_supplement.pdf

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

Beers MF et al.

Cell and Tissue Research, 2017

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Wambach JA et al.

American Journal of Respiratory and Critical Care Medicine, 2014

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Wambach JA et al.

Pediatrics, 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."