Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Knockout of the fcsk gene in zebrafish causes neurodevelopmental defects.
Liu ZX et al.
Zoological Research, 2025
Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model.
Fazelzadeh Haghighi M et al.
Molecular Genetics & Genomic Medicine, 2024
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Al Tuwaijri A et al.
Molecular Genetics & Genomic Medicine, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.
Pajusalu S et al.
Frontiers in Genetics, 2021
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
Ng BG et al.
American Journal of Human Genetics, 2018
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