Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.L142L
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SERPINA1

NM_000295.5:p.L142L

Associated Papers

Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.

Sarrou S et al.

International Journal of Molecular Sciences, 2024

Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.

Lopez-Campos JL et al.

Human Genomics, 2023

Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD.

Gupta N et al.

The European Respiratory Journal, 2020

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Skarp S et al.

Plos One, 2018

30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family12_SNPs

Phenotyping of α-1-Antitrypsin by liquid chromatography-high resolution mass spectrometry.

Bengtson P et al.

Clinical Mass Spectrometry (del Mar, Calif.), 2016

39192843 (PubMed )
Supplement: mmc1.docx
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