Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.R280H
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ABCA3

NM_001089.3:p.R280H

Associated Papers

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

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

ABCA3 gene mutations shape the clinical profiles of severe unexplained respiratory distress syndrome in late preterm and term infants.

Wang J et al.

Translational Pediatrics, 2021

Lung disease caused by ABCA3 mutations.

Kröner C et al.

Thorax, 2017

Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course.

Kumar A et al.

Plos One, 2014

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Wambach JA et al.

Pediatrics, 2012

Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

Bækvad-Hansen M et al.

Respiratory Research, 2012

22866751 (PubMed )
Supplement: 1465-9921-13-67-S4.doc
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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."