Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.W649L
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NAGLU

NM_000263.4:p.W649L

Associated Papers

Adults with lysosomal storage diseases in the undiagnosed diseases network.

Xiao C et al.

Molecular Genetics & Genomic Medicine, 2022

Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder.

Brady J et al.

Bmj Case Reports, 2013

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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."