Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.L522P
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IDS

NM_000202.8:p.L522P

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

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Semyachkina AN et al.

Bmc Medical Genomics, 2021

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.

Demydchuk M et al.

Nature Communications, 2017

28593992 (PubMed )
Supplement: ncomms15786-s1.pdf

Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.

Saito S et al.

Plos One, 2016

Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).

Cho SY et al.

Journal of Korean Medical Science, 2014

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.

Sohn YB et al.

Clinical Genetics, 2012

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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."