Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.S347R
Back to variants list

IDUA

NM_000203.5:p.S347R

Associated Papers

Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.

Borges P et al.

Frontiers in Molecular Biosciences, 2021

34746235 (PubMed )
Supplement: DataSheet1.xlsx › Suppl1

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clarke LA et al.

Clinical Genetics, 2019

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."