Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.E344K
Back to variants list

IDS

NM_000202.8:p.E344K

Associated Papers

Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.

Buchinskaia NV et al.

Turkish Archives of Pediatrics, 2025

39803987 (PubMed )
Supplement: supplementary_material.pdf

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

Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.

Zhang Z et al.

Frontiers in Genetics, 2023

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

Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

Chistiakov DA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."