Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.G210C
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ABCA3

NM_001089.3:p.G210C

Associated Papers

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

Fleury M et al.

Pediatric Pulmonology, 2025

Cyclosporine A in children with ABCA3 deficiency.

Yang X et al.

Pediatric Pulmonology, 2024

Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.

Saugstad OD et al.

Acta Paediatrica (oslo, Norway : 1992), 2007

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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."