Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.G69S
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NAGLU

NM_000263.4:p.G69S

Associated Papers

Mucopolysaccharidosis III: Molecular basis and treatment.

Spahiu L et al.

Pediatric Endocrinology, Diabetes, and Metabolism, 2021

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Filocamo M et al.

Italian Journal of Pediatrics, 2018

Sanfilippo syndrome: causes, consequences, and treatments.

Fedele AO

The Application of Clinical Genetics, 2015

Sanfilippo syndrome: a mini-review.

Valstar MJ et al.

Journal of Inherited Metabolic Disease, 2008

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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."