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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA3

Variant:p.G974delins

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ABCA3

NM_001089.3:p.G974delins

hg38:chr16:2288108 CC>GT

Associated Papers

Efficacy and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency.

Le Brun M et al.

Erj Open Research, 2025

40040902 (PubMed )

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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."