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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA3

Variant:p.V1120F

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ABCA3

NM_001089.3:p.V1120F

hg38:chr16:2285567 C>A

Associated Papers

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

Fleury M et al.

Pediatric Pulmonology, 2025

41090249 (PubMed )

ABCA3-related interstitial lung disease beyond infancy.

Li Y et al.

Thorax, 2023

36808083 (PubMed )

Cryo-EM structures of the human surfactant lipid transporter ABCA3.

Xie T et al.

Science Advances, 2022

35394827 (PubMed )

Supplement: sciadv.abn3727_sm.pdf

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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."