Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.E387fs
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SERPINA1

NM_000295.5:p.E387fs

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

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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."