Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.L377insFs
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SERPINA1

NM_000295.5:p.L377insFs

Associated Papers

A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.

Ozdemir L et al.

Croatian Medical Journal, 2024

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

Lopez-Campos JL et al.

Human Genomics, 2023

Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting.

Bidla G et al.

The Journal of Applied Laboratory Medicine, 2021

Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.

Ottaviani S et al.

Journal of Clinical Laboratory Analysis, 2020

Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.

Veith M et al.

International Journal of Chronic Obstructive Pulmonary Disease, 2019

Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection.

Hernández Pérez JM et al.

Archivos De Bronconeumologia, 2015

Alpha1-antitrypsin deficiency: a clinical-genetic overview.

Abboud RT et al.

The Application of Clinical Genetics, 2011

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.

Jardim JR et al.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0

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