Varaico: Literature-Extracted Genetic Variants

Gene:FUT8
Variant:p.S468fs
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FUT8

NM_001371533.1:p.S468fs

Associated Papers

L-Fucose treatment of FUT8-CDG.

Park JH et al.

Molecular Genetics and Metabolism Reports, 2020

Expanding the molecular and clinical phenotypes of FUT8-CDG.

Ng BG et al.

Journal of Inherited Metabolic Disease, 2020

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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."