Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
Hao Z et al.
Blood, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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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