Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.D301H
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IDUA

NM_000203.5:p.D301H

Associated Papers

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

Clarke LA et al.

Clinical Genetics, 2019

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

Burton BK et al.

The Journal of Pediatrics, 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."