Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.E486*
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IDUA

NM_000203.5:p.E486*

Associated Papers

Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.

Tabassum I et al.

International Journal of Molecular Sciences, 2025

41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.

Gul R et al.

Congenital Anomalies, 2020

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

Ghosh A et al.

Human Mutation, 2017

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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."