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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FCSK

Variant:p.P215H

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FCSK

NM_145059.3:p.P215H

hg38:chr16:70467947 C>A

Associated Papers

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Ng BG et al.

American Journal of Human Genetics, 2018

30503518 (PubMed )

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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."