Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.R419H
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GGCX

NM_000821.7:p.R419H

Associated Papers

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

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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