Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.H404P
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GGCX

NM_000821.7:p.H404P

Associated Papers

Clinical, Laboratory, and Molecular Characteristics of Inherited Vitamin K-Dependent Coagulation Factors Deficiency.

Perrone S et al.

Seminars in Thrombosis and Hemostasis, 2025

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

Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations.

Watzka M et al.

Thrombosis Research, 2014

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

Li Q et al.

The Journal of Investigative Dermatology, 2009

Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1.

Rost S et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2006

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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."