Associated Papers
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.
Borges P et al.
Frontiers in Molecular Biosciences, 2021
34746235 (PubMed )
Supplement: DataSheet1.xlsx › Suppl1
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
Hall PL et al.
International Journal of Neonatal Screening, 2020
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
Combined Hurler and Sanfilippo syndrome in a sibling pair.
Sun A et al.
Molecular Genetics and Metabolism, 2011
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