Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.A403A
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IDUA

NM_000203.5:p.A403A

Associated Papers

Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene.

Furukawa Y et al.

Journal of the Neurological Sciences, 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."