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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FUT8

Variant:p.R239Q

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FUT8

NM_001371533.1:p.R239Q

hg38:chr14:65669361 G>A

Associated Papers

Congenital disorders of glycosylation with defective fucosylation.

Hüllen A et al.

Journal of Inherited Metabolic Disease, 2021

34389986 (PubMed )

Expanding the molecular and clinical phenotypes of FUT8-CDG.

Ng BG et al.

Journal of Inherited Metabolic Disease, 2020

32049367 (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."