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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINA1

Variant:p.E378*

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SERPINA1

NM_000295.5:p.E378*

hg38:chr14:94378574 C>A

Associated Papers

Alpha-1-antitrypsin deficiency caused by a PI*ZQ0Leiria genotype- the importance of diagnosis algorithms.

Silva MJV et al.

Pulmonology, 0

36180350 (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."