Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.R223*
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FGG

NM_021870.3:p.R223*

Associated Papers

Fibrinogen Columbus III: A novel c.963del frameshift mutation in the FGG gene resulting in hypofibrinogenemia with a bleeding phenotype.

Abdelghani E et al.

Pediatric Blood & Cancer, 2021

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.

Neerman-Arbez M et al.

Human Mutation, 2007

Perioperative coagulation management in a patient with afibrinogenemia undergoing liver transplantation.

Fuchs RJ et al.

Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2007

The molecular basis of quantitative fibrinogen disorders.

Asselta R et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.

Neerman-Arbez M et al.

Human Genetics, 2001

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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."