Varaico: Literature-Extracted Genetic Variants

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

IDS

NM_001166550.4:p.E344K

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

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

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

Demydchuk M et al.

Nature Communications, 2017

28593992 (PubMed )
Supplement: ncomms15786-s1.pdf

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).

Vafiadaki E et al.

Archives of Disease in Childhood, 1998

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."