Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.A356T
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SERPINA1

NM_000295.5:p.A356T

Associated Papers

Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin.

Fernández-Gomez B et al.

Diagnostics (basel, Switzerland), 2023

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR et al.

American Journal of Human Genetics, 1998

[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].

Aalfs CM et al.

Nederlands Tijdschrift Voor Geneeskunde, 1996

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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."