Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.H227P
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NAGLU

NM_000263.4:p.H227P

Associated Papers

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.

Okur I et al.

The Journal of Pediatrics, 2022

Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.

Clark WT et al.

Plos One, 2018

29979746 (PubMed )
Supplement: pone.0200008.s004.xlsx › Sheet1

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

Weber B et al.

European Journal of Human Genetics : Ejhg, 1999

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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."