Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.D153G
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GGCX

NM_000821.7:p.D153G

Associated Papers

Structural and Functional Insights into GGCX-FIX Interaction: Implications for Vitamin K-Dependent Bleeding Disorders.

Liu K et al.

Biorxiv : the Preprint Server for Biology, 2025

The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.

Ghosh S et al.

International Journal of Molecular Sciences, 2022

GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients.

Ghosh S et al.

Human Mutation, 2022

GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients.

Ghosh S et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.

Hao Z et al.

Blood, 2021

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

De Vilder EY et al.

International Journal of Molecular Sciences, 2017

Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.

Tie JK et al.

Blood, 2016

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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."