Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R474_Y475del1
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IDUA

NM_000203.5:p.R474_Y475del1

Associated Papers

Ocular Manifestations of Hurler-Scheie Syndrome: Recurrence of Host Disease in the Corneal Transplant.

Kölkedi Z et al.

Molecular Syndromology, 2023

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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."