Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.P650L
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IDUA

NM_000203.5:p.P650L

Associated Papers

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

Newborn screening in mucopolysaccharidoses.

Donati MA et al.

Italian Journal of Pediatrics, 2018

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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."