Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.R74H
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NAGLU

NM_000263.4:p.R74H

Associated Papers

Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.

Sidhu NS et al.

Acta Crystallographica. Section D, Biological Crystallography, 2014

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

Yogalingam G et al.

Human Mutation, 2001

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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."