Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R435G
Back to variants list

IDUA

NM_000203.5:p.R435G

Associated Papers

Combining clinically benign IDUA variants in cis reduces enzymatic activity of the resulting enzyme within the pathogenic range.

Yu SH et al.

Molecular Genetics and Metabolism, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."