The phenotypic state of biallelic SERPINA1 Q0 variants in α1-antitrypsin deficiency
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DOI: 10.1183/23120541.00228-2025
Abstract: Extract Rare variants play an important role in α1-antitrypsin deficiency (AATD) [1]. The Mediterranean area has a high variability for rare pathogenic variants, more frequently reported in Morocco, Portugal, Italy, Cyprus and Greece [1–4.] Among… read more here.
Keywords: serpina1 variants; biallelic serpina1; antitrypsin deficiency; serpina1 ... See more keywords