Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.I403T
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NAGLU

NM_000263.4:p.I403T

Associated Papers

Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.

Lopergolo D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

Tétreault M et al.

Brain : a Journal of Neurology, 2015

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Valstar MJ et al.

Journal of Inherited Metabolic Disease, 2010

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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."