Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.T147I
Back to variants list

SERPINC1

NM_000488.4:p.T147I

Associated Papers

Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.

Orlando C et al.

Thrombosis and Haemostasis, 2021

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.

Picard V et al.

Human Genetics, 2010

Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.

Picard V et al.

Human Mutation, 2006

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."