Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.N350delFs
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IDUA

NM_000203.5:p.N350delFs

Associated Papers

[Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene].

Jia H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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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."