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proband was not available to determine if she also carried both ABCA3 variants, but it is highly likely based on her clinical course. We identified a novel synonymous variant and a deletion in the ABCA3 gene that may be responsible for the pathogenesis in patients in this family. These results add to the known mutational spectrum of the ABCA3 gene. The study of ABCA3 variants may be helpful for the implementation of patient-specific therapies. We identified a novel synonymous variant and a deletion in the ABCA3 gene that may be responsibl