Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.R110K
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IDS

NM_000202.8:p.R110K

Associated Papers

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.

Burton BK et al.

Jimd Reports, 2026

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

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Kadali S et al.

Molecular and Cellular Biochemistry, 2019

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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."