Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.N534H
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IDS

NM_000202.8:p.N534H

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

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.

Zhong L et al.

Clinical Genetics, 2023

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).

Lin HY et al.

International Journal of Molecular Sciences, 2019

Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.

Alkhzouz C et al.

Jimd Reports, 2017

Osteoarthropathy in mucopolysaccharidosis type II.

Nascu I et al.

Clujul Medical (1957), 2013

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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."