Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.H366D
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FGG

NM_021870.3:p.H366D

Associated Papers

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

Ramanan R et al.

British Journal of Haematology, 2023

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.

Richard M et al.

Seminars in Thrombosis and Hemostasis, 2022

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

Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases.

Callea F et al.

International Journal of Molecular Sciences, 2021

Hereditary Hypofibrinogenemia with Hepatic Storage.

Asselta R et al.

International Journal of Molecular Sciences, 2020

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism.

Burcu G et al.

International Journal of Molecular Sciences, 2020

A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage.

Callea F et al.

Pathology, 2017

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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."