Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.E545*
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IDUA

NM_000203.5:p.E545*

Associated Papers

A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.

Li Y et al.

Journal of 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."