Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.Q706*
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NAGLU

NM_000263.4:p.Q706*

Associated Papers

An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs.

Raj K et al.

Scientific Reports, 2020

Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B.

Birrane G et al.

Journal of Structural Biology, 2019

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.

Whitley CB et al.

The Journal of Pediatrics, 2018

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

Zhao HG et al.

American Journal of Human Genetics, 1998

NAGLU mutations underlying Sanfilippo syndrome type B.

Schmidtchen A et al.

American Journal of Human Genetics, 1998

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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."