Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.D397Splc
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IDUA

NM_000203.5:p.D397Splc

Associated Papers

Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I.

Can NTB et al.

Life (basel, Switzerland), 2021

Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).

Guffon N et al.

Orphanet Journal of Rare Diseases, 2021

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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."