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Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis

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Why do some adults with PiMZ alpha1-antitrypin develop bronchiectasis?

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Alpha1-antitrypsin regulates transcriptional levels of serine proteases in blood mononuclear cells

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Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency

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Severe Alpha-1 Antitrypsin Deficiency in composite heterozygotes carrying a new splicing mutation QOMadrid

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Alpha-1-Antitrypsin Deficiency Associated With the Mattawa Variant

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Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors

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Diagnostic Performance of a Lateral Flow Assay for the Detection of Alpha-1-Antitrypsin Deficiency

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miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease

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Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency

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Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant. Mov Disord Clin Pract. 2024 Jun;11(6):708-715

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Mitochondrial RNA methyltransferase TRMT61B is a new, potential aneuploidy biomarker and therapeutic target for unstable cancers

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