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Functional assessment of IDUA variants of uncertain significance identified by newborn screening.
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Npj Genomic Medicine, 2024
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.
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IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
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Human Mutation, 2017
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