Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.E545delFs
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IDUA

NM_000203.5:p.E545delFs

Associated Papers

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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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."