Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.W308R
Back to variants list

ABCA3

NM_001089.3:p.W308R

Associated Papers

Lentiviral-mediated gene complementation rescues pathogenic ABCA3 variants.

Cooney AL et al.

Biorxiv : the Preprint Server for Biology, 2025

Evaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.

Jinson S et al.

Pediatric Pulmonology, 2025

Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.

Sun YL et al.

The Journal of Clinical Investigation, 2024

ABCA3-related interstitial lung disease beyond infancy.

Li Y et al.

Thorax, 2023

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

Yang X et al.

International Journal of Molecular Sciences, 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

Lung disease caused by ABCA3 mutations.

Kröner C et al.

Thorax, 2017

Candidate genes of idiopathic pulmonary fibrosis: current evidence and research.

Zhou W et al.

The Application of Clinical Genetics, 2016

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.

Campo I et al.

Respiratory Research, 2014

Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate.

Parappil H et al.

Bmj Case Reports, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."