Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.Y225C
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IDS

NM_000202.8:p.Y225C

Associated Papers

Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.

Zhang Z et al.

Frontiers in Genetics, 2023

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.

Burton BK et al.

International Journal of Neonatal Screening, 2020

Newborn screening for mucopolysaccharidosis type II: Lessons learned.

Burton BK et al.

Molecular Genetics and Metabolism, 0

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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."