Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.L1595P
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ABCA3

NM_001089.3:p.L1595P

Associated Papers

Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.

Xu KK et al.

Pediatric Pulmonology, 2022

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

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

Beers MF et al.

Cell and Tissue Research, 2017

Surfactant composition and function in patients with ABCA3 mutations.

Garmany TH et al.

Pediatric Research, 2006

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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."