Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.Y184delFs
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SERPINA1

NM_000295.5:p.Y184delFs

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

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.

Ferrarotti I et al.

Orphanet Journal of Rare Diseases, 2024

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

Lopez-Campos JL et al.

Human Genomics, 2023

The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.

Ortega VE et al.

American Journal of Respiratory and Critical Care Medicine, 2020

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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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."