Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.K914R
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ABCA3

NM_001089.3:p.K914R

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

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

Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations.

Kitazawa H et al.

European Journal of Pediatrics, 2013

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Hamvas A et al.

The Journal of Pediatrics, 2009

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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."