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[Partial research progress of GGCX pathogenic variation associated phenotypes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2022

Shen Guomin, Liu Hongli, Shen Yan, Xi Shoumin

Abstract excerpt

γ-glutamyl carboxylase (GGCX), also known as vitamin K-dependent glutamyl carboxylase, catalyzes the posttranslational modification of specific glutamate residues in vitamin K-dependent proteins (VKDPs), and participates multiple biological functions including blood coagulation, bone metabolism, vascular calcification, and cell proliferation. It has been reported originally that GGCX pathogenic variation causes...

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PMID: 35773773
DOI: 10.3760/cma.j.cn511374-20210430-00381

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