Associated Papers
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
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
Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations.
Watzka M et al.
Thrombosis Research, 2014
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