Varaico: Literature-Extracted Genetic Variants

Gene:FCSK
Variant:p.V1005L
Back to variants list

FCSK

NM_145059.3:p.V1005L

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."