Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.F235S
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ABCA3

NM_001089.3:p.F235S

Associated Papers

A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.

Tang X et al.

Italian Journal of Pediatrics, 2025

Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.

Serra G et al.

Journal of Clinical Medicine, 2025

Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 Gene.

Chen F et al.

Frontiers in Genetics, 2022

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