Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.L1584delFs
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ABCA3

NM_001089.3:p.L1584delFs

Associated Papers

Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.

Balinotti JE et al.

Pediatric Pulmonology, 2023

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

Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.

Wambach JA et al.

American Journal of Respiratory Cell and Molecular Biology, 2016

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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."