Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.T478I
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THBD

NM_000361.3:p.T478I

Associated Papers

Functional assessment of genetic variants in thrombomodulin detected in patients with bleeding and thrombosis.

Van Laer C et al.

Blood, 2025

Functional and Genetic Landscape of Complement Dysregulation Along the Spectrum of Thrombotic Microangiopathy and its Potential Implications on Clinical Outcomes.

Timmermans SAMEG et al.

Kidney International Reports, 2021

Diagnostic and Risk Factors for Complement Defects in Hypertensive Emergency and Thrombotic Microangiopathy.

Timmermans SAMEG et al.

Hypertension (dallas, Tex. : 1979), 2020

C5b9 Formation on Endothelial Cells Reflects Complement Defects among Patients with Renal Thrombotic Microangiopathy and Severe Hypertension.

Timmermans SAMEG et al.

Journal of the American Society of Nephrology : Jasn, 2018

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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."