Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.E257*
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FGG

NM_021870.3:p.E257*

Associated Papers

Gastrointestinal bleeding after endoscopic mucosal resection in a case of Peutz-Jeghers syndrome with hypofibrinogenemia: A case report.

Kakiuchi T et al.

Frontiers in Pediatrics, 2022

Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins.

Vu D et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

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

Fibrinogen gene mutations accounting for congenital afibrinogenemia.

Neerman-Arbez M

Annals of the New York Academy of Sciences, 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."