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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GFUS

Variant:p.N235del1

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GFUS

NM_003313.4:p.N235del1

hg38:chr8:143613775 CATT>C

Associated Papers

Congenital disorders of glycosylation with defective fucosylation.

Hüllen A et al.

Journal of Inherited Metabolic Disease, 2021

34389986 (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."