Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.D187V
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IDS

NM_000202.8:p.D187V

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

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

Demydchuk M et al.

Nature Communications, 2017

28593992 (PubMed )
Supplement: ncomms15786-s1.pdf
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