Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.W27*
Back to variants list

SERPINC1

NM_000488.4:p.W27*

Associated Papers

Identification of two de novo variants causing inherited antithrombin deficiency by quantitative analysis of variant alleles.

Togashi T et al.

Thrombosis Research, 2024

Gene editing of human iPSCs rescues thrombophilia in hereditary antithrombin deficiency in mice.

Tang LV et al.

Science Translational Medicine, 2022

Generation of a human iPSC line ZZUNEUi014-A from a patient with antithrombin deficiency caused by mutation in SERPINC1 gene.

Hong J et al.

Stem Cell Research, 2022

Seventeen novel SERPINC1 variants causing hereditary antithrombin deficiency in a Czech population.

Provazníková D et al.

Thrombosis Research, 2020

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."