Varaico: Literature-Extracted Genetic Variants

Gene:FCSK
Variant:p.S223P
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FCSK

NM_145059.3:p.S223P

Associated Papers

Knockout of the fcsk gene in zebrafish causes neurodevelopmental defects.

Liu ZX et al.

Zoological Research, 2025

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

Gimeno AF et al.

American Journal of Medical Genetics. Part A, 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

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Ng BG et al.

American Journal of Human Genetics, 2018

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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."