Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R628G
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IDUA

NM_000203.5:p.R628G

Associated Papers

The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.

Polo G et al.

Clinical Chemistry and Laboratory Medicine, 2020

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

Gragnaniello V et al.

International Journal of Neonatal Screening, 2020

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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."