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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINA1

Variant:p.D294E

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SERPINA1

NM_000295.5:p.D294E

hg38:chr14:94380906 A>C

Associated Papers

Alpha-amino-beta-carboxymuconic-epsilon-semialdehyde decarboxylase (ACMSD) is a new member of the amidohydrolase superfamily.

Li T et al.

Biochemistry, 2006

16716073 (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."