Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.R1550W
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ABCA3

NM_001089.3:p.R1550W

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

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

Beers MF et al.

Cell and Tissue Research, 2017

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

Doan ML et al.

Thorax, 2008

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