Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.R88L
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IDS

NM_000202.8:p.R88L

Associated Papers

Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.

Zhang W et al.

Italian Journal of Pediatrics, 2025

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.

Zanetti A et al.

Human Genomics, 2024

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

Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Chang JH et al.

Human Genetics, 2005

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.

Kato T et al.

Journal of Human Genetics, 2005

Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.

Karsten S et al.

Human Genetics, 1998

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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."