Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.F255L
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ABCA3

NM_001089.3:p.F255L

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

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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."