Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.A85S
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IDS

NM_000202.8:p.A85S

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

Mucopolysaccharidosis type II: an update on mutation spectrum.

Froissart R et al.

Acta Paediatrica (oslo, Norway : 1992), 2007

Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Chang JH et al.

Human Genetics, 2005

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

Froissart R et al.

Clinical Genetics, 1998

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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."