Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.D349G
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IDUA

NM_000203.5:p.D349G

Associated Papers

Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I.

Can NTB et al.

Life (basel, Switzerland), 2021

SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.

Ou L et al.

Clinical Genetics, 2018

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Ou L et al.

Orphanet Journal of Rare Diseases, 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."