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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINA1

Variant:p.D365Y

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SERPINA1

NM_000295.5:p.D365Y

hg38:chr14:94378613 C>A

Associated Papers

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

Ferrarotti I et al.

Orphanet Journal of Rare Diseases, 2024

38388492 (PubMed )

Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency.

Ottaviani S et al.

American Journal of Respiratory Cell and Molecular Biology, 2023

37071847 (PubMed )

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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."