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Article

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

International journal of molecular sciences - 25 Jan 2017

De Vilder Eva Y G, Debacker Jens, Vanakker Olivier M

Abstract excerpt

Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX), is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP) with important functions in various biological processes. Mutations in the encoding GGCX gene are associated with multiple phenotypes, amongst which vitamin K-dependent coagulation factor deficiency (VKCFD1) is best known. Other patients have skin, eye, heart or...

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Source

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Identifiers

PMID: 28125048
DOI: 10.3390/ijms18020240
PMCID: PMC5343777

Genes

GGCX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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