Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.N103Splc
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FGG

NM_021870.3:p.N103Splc

Associated Papers

Pathogenic Mechanisms in Congenital Afibrinogenemia: A Systematic Review of Genetic Variants.

Li Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A.

Mukai S et al.

Thrombosis Research, 2016

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

Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA).

Attanasio C 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."