Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.E398del1
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IDUA

NM_000203.5:p.E398del1

Associated Papers

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.

Chuang CK et al.

International Journal of Molecular Sciences, 2022

Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I.

Lin CY et al.

Journal of Personalized Medicine, 2022

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.

Lin HY et al.

Diagnostics (basel, Switzerland), 2019

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