Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.E639*
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NAGLU

NM_000263.4:p.E639*

Associated Papers

Adults with lysosomal storage diseases in the undiagnosed diseases network.

Xiao C et al.

Molecular Genetics & Genomic Medicine, 2022

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Kadali S et al.

Molecular and Cellular Biochemistry, 2019

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

Beesley CE et al.

Journal of Inherited Metabolic Disease, 2005

Sanfilippo B syndrome: molecular defects in Greek patients.

Beesley C et al.

Clinical Genetics, 2004

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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."