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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDUA

Variant:p.G651D

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IDUA

NM_000203.5:p.G651D

hg38:chr4:1004383 G>A

Associated Papers

Inhibition of iduronic acid biosynthesis by ebselen reduces glycosaminoglycan accumulation in mucopolysaccharidosis type I fibroblasts.

Maccarana M et al.

Glycobiology, 2021

34192316 (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."