Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.H356_R363del0
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IDUA

NM_000203.5:p.H356_R363del0

Associated Papers

Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.

Rebai M et al.

Molecular Genetics and Metabolism Reports, 2025

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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."