Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.L941P
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ABCA3

NM_001089.3:p.L941P

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

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

Beers MF et al.

Cell and Tissue Research, 2017

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

Pachajoa H et al.

Journal of Medical Case Reports, 2016

An intronic ABCA3 mutation that is responsible for respiratory disease.

Agrawal A et al.

Pediatric Research, 2012

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.

Peca D et al.

Respiratory Research, 2011

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