Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.S491Y
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IDS

NM_000202.8:p.S491Y

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

The diagnosis and management of mucopolysaccharidosis type II.

Mao SJ et al.

Italian Journal of Pediatrics, 2024

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

Zhong L et al.

Clinical Genetics, 2023

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