Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.G392S
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FGG

NM_021870.3:p.G392S

Associated Papers

Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools.

Ramanan R et al.

British Journal of Haematology, 2023

Novel variant fibrinogen γp.C352R produced hypodysfibrinogenemia leading to a bleeding episode and failure of infertility treatment.

Yoda M et al.

International Journal of Hematology, 2021

Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors.

Bellacchio E

International Journal of Molecular Sciences, 2020

Hereditary Hypofibrinogenemia with Hepatic Storage.

Asselta R et al.

International Journal of Molecular Sciences, 2020

Can the phenotype of inherited fibrinogen disorders be predicted?

Casini A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.

Zhang MH et al.

Bmc Gastroenterology, 2016

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.

Asselta R et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

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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."