Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.G125Splc
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GGCX

NM_000821.7:p.G125Splc

Associated Papers

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

De Vilder EY et al.

International Journal of Molecular Sciences, 2017

Splice-Site Mutation of Exon 3 Deletion in the Gamma-Glutamyl Carboxylase Gene Causes Inactivation of the Enzyme.

Jin DY et al.

The Journal of Investigative Dermatology, 2016

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

Kariminejad A et al.

The Journal of Investigative Dermatology, 2014

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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."