Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.R406H
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GGCX

NM_000821.7:p.R406H

Associated Papers

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.

Almazni I et al.

Human Mutation, 2020

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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