Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.Y618*
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IDUA

NM_000203.5:p.Y618*

Associated Papers

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

Kwak MJ et al.

Bmc Medical Genetics, 2016

Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.

Sun L et al.

Genetics and Molecular Biology, 2011

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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."