Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.L496P
Back to variants list

NAGLU

NM_000263.4:p.L496P

Associated Papers

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.

Castro Moreira ML et al.

Diagnostics (basel, Switzerland), 2025

Disease progression in Sanfilippo type B: Case series of Brazilian patients.

Montenegro YHA et al.

Genetics and Molecular Biology, 2024

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.

Montenegro YHA et al.

American Journal of Medical Genetics. Part A, 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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."