Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.E299A
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IDUA

NM_000203.5:p.E299A

Associated Papers

Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.

Borges P et al.

Frontiers in Molecular Biosciences, 2021

34746235 (PubMed )
Supplement: DataSheet1.xlsx › Suppl1

Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.

Sugawara K et al.

Journal of Human Genetics, 2008

Alpha-L-iduronidase and enzyme replacement therapy for mucopolysaccharidosis I.

Brooks DA

Expert Opinion on Biological Therapy, 2002

Glycosidase active site mutations in human alpha-L-iduronidase.

Brooks DA et al.

Glycobiology, 2001

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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."