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. 2023 Apr 20;24(8):7554. doi: 10.3390/ijms24087554

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© 2023 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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(A) Function in vitro of ABCA3 variants; (B) trafficking/pumping in vitro of ABCA3 variants; (C) clinical outcome of patients (32/54) with two variants that had been characterized in vitro, and sorting by sum function in vitro. The solid circles stand for the clinical outcomes of patients with compound heterozygous variants. The hollow circles stand for the clinical outcomes of patients with homozygous variants. The semi-hollow circles stand for the clinical outcomes of patients with homozygous variants and with lung transplantation. The semi-trapezoids stand for the clinical outcomes of patients with compound heterozygous variants and with lung transplantation. The function of the 2 variants (calculated as the sum of the average ratio of the 2 involved variants to the WTs) may correspond to the total functional activity of a subject with two alleles of ABCA3. The dotted line at 1 (=50%) stands for normal trafficking and pumping sum, i.e., a function of 2. The values without compatible results are marked with patients’ ID 4, 15, and 26, respectively (Table S3).