Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.T273N
Back to variants list

SERPINA1

NM_000295.5:p.T273N

Associated Papers

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

AAV vectors expressing LDLR gain-of-function variants demonstrate increased efficacy in mouse models of familial hypercholesterolemia.

Somanathan S et al.

Circulation Research, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."