Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.D413_A422del0
Back to variants list

IDUA

NM_000203.5:p.D413_A422del0

Associated Papers

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Voskoboeva EY et al.

Frontiers in Molecular Biosciences, 2021

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.

Hall PL et al.

International Journal of Neonatal Screening, 2020

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."