Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.L579P
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ABCA3

NM_001089.3:p.L579P

Associated Papers

Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.

Fleury M et al.

Pediatric Pulmonology, 2025

ABCA3-related interstitial lung disease beyond infancy.

Li Y et al.

Thorax, 2023

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 classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system.

Denman L et al.

Pediatric Investigation, 2018

Lung disease caused by ABCA3 mutations.

Kröner C et al.

Thorax, 2017

Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.

Brasch F et al.

American Journal of Respiratory and Critical Care Medicine, 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."