Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.R106*
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ABCA3

NM_001089.3:p.R106*

Associated Papers

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

Fleury M et al.

Pediatric Pulmonology, 2025

The biology of the ABCA3 lipid transporter in lung health and disease.

Beers MF et al.

Cell and Tissue Research, 2017

Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.

Ciantelli M et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2011

Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.

Bullard JE et al.

Pediatric Research, 2007

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Shulenin S et al.

The New England Journal of Medicine, 2004

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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."