Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.C184F
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IDS

NM_000202.8:p.C184F

Associated Papers

Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.

Buchinskaia NV et al.

Turkish Archives of Pediatrics, 2025

39803987 (PubMed )
Supplement: supplementary_material.pdf

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

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Semyachkina AN et al.

Bmc Medical Genomics, 2021

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

Hunter disease before and during enzyme replacement therapy.

Hoffmann B et al.

Pediatric Neurology, 2011

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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."