Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.P496delFs
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THBD

NM_000361.3:p.P496delFs

Associated Papers

Novel p.C252G and p.C280X mutations in the epidermal growth factor-1 domain of thrombomodulin lead to a thrombosis-bleeding syndrome.

Wang X et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Thrombomodulin (p.Cys537Stop) is released from cells by an unusual membrane insertion/leakage mechanism.

Bernard C et al.

Blood Advances, 2024

Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.

Mathews N et al.

International Journal of Laboratory Hematology, 2023

A novel homozygous variant of the thrombomodulin gene causes a hereditary bleeding disorder.

Osada M et al.

Blood Advances, 2021

Natural anticoagulants: A missing link in mild to moderate bleeding tendencies.

Mehic D et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

Characterisation of a novel thrombomodulin c.1487delC,p.(Pro496Argfs*10) variant and evaluation of therapeutic strategies to manage the rare bleeding phenotype.

Morrow GB et al.

Thrombosis Research, 2021

A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency.

Westbury SK et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

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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."