Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.Y558*
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NAGLU

NM_000263.4:p.Y558*

Associated Papers

Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.

Fateen E et al.

Molecular Biology Reports, 2025

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Noureldeen MM et al.

Italian Journal of Pediatrics, 2025

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Almenabawy N et al.

American Journal of Medical Genetics. Part A, 2023

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Genetics and genomic medicine in Tunisia.

Elloumi-Zghal H et al.

Molecular Genetics & Genomic Medicine, 2018

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Ouesleti S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

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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."