Varaico: Literature-Extracted Genetic Variants

Gene:FGG
Variant:p.S245F
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FGG

NM_021870.3:p.S245F

Associated Papers

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

Ramanan R et al.

British Journal of Haematology, 2023

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

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.

Paraboschi EM et al.

International Journal of Molecular Sciences, 2017

Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.

Ali SK et al.

Journal of Biomolecular Structure & Dynamics, 2017

Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Lee EJ et al.

Blood Advances, 2017

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.

Huffman JE et al.

Blood, 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."