Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.R20L
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ABCA3

NM_001089.3:p.R20L

Associated Papers

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

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.

Oltvai ZN et al.

Cold Spring Harbor Molecular Case Studies, 2020

32532878 (PubMed )
Supplement: supp_mcs.a005074_Supplemental_Tables.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

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

Beers MF et al.

Cell and Tissue Research, 2017

Genetic testing in children with surfactant dysfunction.

Turcu S et al.

Archives of Disease in Childhood, 2013

ABCA3 transporter deficiency.

Hayes D et al.

American Journal of Respiratory and Critical Care Medicine, 2012

Clinical, radiological and pathological features of ABCA3 mutations in children.

Doan ML et al.

Thorax, 2008

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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."