Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.H416Y
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IDUA

NM_000203.5:p.H416Y

Associated Papers

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

Rathmann M et al.

American Journal of Human Genetics, 1996

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

Popowska E et al.

Human Mutation, 1995

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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."