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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINA1

Variant:p.I100N

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SERPINA1

NM_000295.5:p.I100N

hg38:chr14:94382939 A>T

Associated Papers

NullCanada: A novel α1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn.

Chen S et al.

Clinical Biochemistry, 2020

32087139 (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."