Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.V241M
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NAGLU

NM_000263.4:p.V241M

Associated Papers

[Case of Sanfilippo syndrome type B and Wilson disease born to unrelated parents].

Takaura N et al.

No to Hattatsu = Brain and Development, 2006

Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.

Tanaka A et al.

Journal of Human Genetics, 2002

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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."