Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.W1554*
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ABCA3

NM_001089.3:p.W1554*

Associated Papers

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

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

Beers MF et al.

Cell and Tissue Research, 2017

Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.

Saugstad OD et al.

Acta Paediatrica (oslo, Norway : 1992), 2007

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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."