Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.V413M
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SERPINA1

NM_000295.5:p.V413M

Associated Papers

Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.

Nikolic A

Lung, 2018

Extracellular matrix remodeling genes polymorphisms and risk of chronic bronchitis and recurrent pneumonia in children.

Korytina GF et al.

Journal of Human Genetics, 2013

Genetic influences on cystic fibrosis lung disease severity.

Weiler CA et al.

Frontiers in Pharmacology, 2013

Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients.

Papatheodorou A et al.

Clinical Biochemistry, 2010

Update on gene modifiers in cystic fibrosis.

Collaco JM et al.

Current Opinion in Pulmonary Medicine, 2008

Association of improved pulmonary phenotype in Irish cystic fibrosis patients with a 3' enhancer polymorphism in alpha-1-antitrypsin.

Courtney JM et al.

Pediatric Pulmonology, 2006

Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease.

Frangolias DD et al.

American Journal of Respiratory Cell and Molecular Biology, 2003

Candidate genes and confirmed genetic polymorphisms associated with cardiovascular diseases: a tabular assessment.

Tang Z et al.

Journal of Thrombosis and Thrombolysis, 2001

alpha 1-antitrypsin TAQ I polymorphism and alpha 1-antichymotrypsin mutations in patients with obstructive pulmonary disease.

Benetazzo MG et al.

Respiratory Medicine, 1999

[Genotype-phenotype correlation in a sample of Mexican patients with cystic fibrosis].

Yokoyama E et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0

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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."