Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.D397Splc
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IDUA

NM_000203.5:p.D397Splc

Associated Papers

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.

Azab B et al.

Molecular Genetics and Metabolism Reports, 2017

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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."