Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.R94P
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NAGLU

NM_000263.4:p.R94P

Associated Papers

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

Meijer OLM et al.

Journal of Inherited Metabolic Disease, 2016

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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."