Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.I1193M
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ABCA3

NM_001089.3:p.I1193M

Associated Papers

ABCA3 Surfactant-Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature.

Nolan J et al.

Respirology Case Reports, 2025

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

34638622 (PubMed )
Supplement: ijms-22-10282-s001.zip › Supplementary_Tables_IJMS.pdf

ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature.

Klay D et al.

Current Opinion in Pulmonary Medicine, 2020

Lung disease caused by ABCA3 mutations.

Kröner C et al.

Thorax, 2017

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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."