Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.D334A
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IDS

NM_000202.8:p.D334A

Associated Papers

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.

Zanetti A et al.

Human Genomics, 2024

39617925 (PubMed )
Supplement: 40246_2024_701_MOESM1_ESM.xlsx › TableS3_UniquePointVariants

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

Josahkian JA et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021

The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II.

Żuber Z et al.

Plos One, 2014

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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."