Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.C252G
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THBD

NM_000361.3:p.C252G

Associated Papers

Commentary on "Novel p.C252G and p.C280X mutations in EGF-1 domain of thrombomodulin lead to a thrombosis-bleeding syndrome".

Iwaki T

Journal of Thrombosis and Haemostasis : Jth, 2025

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

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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."