Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.H408Q
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GGCX

NM_000821.7:p.H408Q

Associated Papers

Diagnosis, treatment, surgical practices and review of the literature in rare coagulation factor deficiencies.

Solgun HA

Italian Journal of Pediatrics, 2025

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Zhu N et al.

Genome Medicine, 2019

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

De Vilder EY et al.

International Journal of Molecular Sciences, 2017

28125048 (PubMed )
Supplement: ijms-18-00240-s001.zip › Table_S1-gnomAD_GGCX_20161220.xlsx › gnomAD_data_GGCX
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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."