Varaico: Literature-Extracted Genetic Variants

Gene:CPB2
Variant:p.R114*
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CPB2

NM_001872.5:p.R114*

Associated Papers

Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.

Mathews N et al.

International Journal of Laboratory Hematology, 2023

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

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

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Alakus H et al.

Genome Medicine, 2014

24944587 (PubMed )
Supplement: gm559-S3.xls › Table_S4
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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."