Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.S470L
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IDS

NM_000202.8:p.S470L

Associated Papers

Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II.

Bilyeu H et al.

International Journal of Neonatal Screening, 2020

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

Burton BK et al.

International Journal of Neonatal Screening, 2020

Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots.

Scott CR et al.

The Journal of Pediatrics, 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."