Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.V341Splc
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NAGLU

NM_000263.4:p.V341Splc

Associated Papers

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.

Okur I et al.

The Journal of Pediatrics, 2022

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.

Ozkinay F et al.

Molecular Genetics and Metabolism Reports, 2021

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).

Champion KJ et al.

Molecular Genetics and Metabolism, 2010

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

Beesley CE et al.

Journal of Inherited Metabolic Disease, 2005

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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."