Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.R88G
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IDS

NM_000202.8:p.R88G

Associated Papers

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.

Zanetti A et al.

Human Genomics, 2024

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.

Demydchuk M et al.

Nature Communications, 2017

Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.

Saito S et al.

Plos One, 2016

Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Chang JH et al.

Human Genetics, 2005

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.

Kato T et al.

Journal of Human Genetics, 2005

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

Froissart R et al.

Clinical Genetics, 1998

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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."