Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.C422G
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IDS

NM_000202.8:p.C422G

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

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.

Gul R et al.

Frontiers in Genetics, 2023

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

Demydchuk M et al.

Nature Communications, 2017

28593992 (PubMed )
Supplement: ncomms15786-s1.pdf

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

Saito S et al.

Plos One, 2016

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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."