Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.W467*
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FGB

NM_005141.5:p.W467*

Associated Papers

A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.

Chen W et al.

Thrombosis Journal, 2025

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Magallón-Lorenz M et al.

Iscience, 2023

36818284 (PubMed )
Supplement: mmc2.xlsx › STS-26T

An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds.

Mischke R et al.

Genes, 2021

Prenatal diagnosis in rare bleeding disorders-An unresolved issue?

Tabibian S et al.

International Journal of Laboratory Hematology, 2018

Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders.

Tiscia GL et al.

International Journal of Molecular Sciences, 2018

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

Casini A et al.

Thrombosis Research, 2014

Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants.

Vu D et al.

Haematologica, 2008

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

The molecular basis of quantitative fibrinogen disorders.

Asselta R et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

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

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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."