Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.C171R
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IDS

NM_000202.8:p.C171R

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

39617925 (PubMed )
Supplement: 40246_2024_701_MOESM1_ESM.xlsx › TableS3_UniquePointVariants

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

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

Kato T et al.

Journal of Human Genetics, 2005

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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."