Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.R513K
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GGCX

NM_000821.7:p.R513K

Associated Papers

Structural insight into bicarbonate-mediated carboxylation by human vitamin K-dependent carboxylase.

Wu K et al.

Nature Communications, 2025

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

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

Hao Z et al.

Blood, 2021

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity.

Dordoni C et al.

Journal of Dermatological Science, 2018

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

De Vilder EY et al.

International Journal of Molecular Sciences, 2017

28125048 (PubMed )
Supplement: ijms-18-00240-s001.zip › Table_S1-gnomAD_GGCX_20161220.xlsx › gnomAD_data_GGCX

Novel CYP2C9 genetic variants in Asian subjects and their influence on maintenance warfarin dose.

Zhao F et al.

Clinical Pharmacology and Therapeutics, 2004

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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."