Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.G537*
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GGCX

NM_000821.7:p.G537*

Associated Papers

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

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

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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."