Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R363L
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IDUA

NM_000203.5:p.R363L

Associated Papers

Mucopolysaccharidosis Type I.

Kubaski F et al.

Diagnostics (basel, Switzerland), 2020

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

Clarke LA et al.

Clinical Genetics, 2019

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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."