Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.K915N
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ABCA3

NM_001089.3:p.K915N

Associated Papers

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

Structure-Based Understanding of ABCA3 Variants.

Onnée M et al.

International Journal of Molecular Sciences, 2021

Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.

Si X et al.

The Journal of Pediatrics, 2021

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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."