Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.C265S
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THBD

NM_000361.3:p.C265S

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

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

Osada M et al.

Blood Advances, 2021

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