Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.L383R
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FGB

NM_005141.5:p.L383R

Associated Papers

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.

Mohsenian S et al.

Blood Advances, 2024

FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.

Casini A et al.

Thrombosis Research, 2014

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

Molecular basis of fibrinogen deficiency.

Neerman-Arbez M

Pathophysiology of Haemostasis and Thrombosis, 2006

Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.

Vu D et al.

Journal of Medical Genetics, 2005

Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.

Vu D et al.

Blood, 2003

Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family.

Neerman-Arbez M et al.

Blood, 2003

Fibrinogen gene mutations accounting for congenital afibrinogenemia.

Neerman-Arbez M

Annals of the New York Academy of Sciences, 2001

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