Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.Y536*
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IDS

NM_000202.8:p.Y536*

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

Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series.

Chan MY et al.

Molecular Genetics and Metabolism Reports, 2023

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

Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II.

Ngu LH et al.

Molecular Genetics and Metabolism Reports, 2017

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

Brusius-Facchin AC et al.

Molecular Genetics and Metabolism, 2014

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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."