Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.V279A
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IDUA

NM_000203.5:p.V279A

Associated Papers

Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

Bie H et al.

Nature Chemical Biology, 2013

24036510 (PubMed )
Supplement: NIHMS3970-supplement-1.pdf
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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."