Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.R128Splc
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NAGLU

NM_000263.4:p.R128Splc

Associated Papers

Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report.

de Laurentis C et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.

Lin HY et al.

Diagnostics (basel, Switzerland), 2019

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

Clark WT et al.

Plos One, 2018

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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."