Varaico: Literature-Extracted Genetic Variants

Gene:FGA
Variant:p.T616delFs
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FGA

NM_021871.4:p.T616delFs

Associated Papers

Mutation of the -RPVR- Propeptide Motif at C-Terminal of the Aα Chain Is Associated with Decreased Fibrinogen Expression.

Brennan SO et al.

Thrombosis and Haemostasis, 2018

Ankle joint-preserving surgery in a patient with severe haemophilia and Noonan syndrome: case report and literature review.

Horisberger M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

Successful pregnancy under fibrinogen substitution in a woman with congenital afibrinogenaemia complicated by a postpartum venous thrombosis.

Lebreton A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

Congenital fibrinogen disorders: an update.

de Moerloose P et al.

Seminars in Thrombosis and Hemostasis, 2013

A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family.

Levrat E et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2011

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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."