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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GFUS

Variant:p.S220L

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GFUS

NM_003313.4:p.S220L

hg38:chr8:143614168 G>A

Associated Papers

A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.

Feichtinger RG et al.

Embo Molecular Medicine, 2021

34468083 (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."