Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.R533*
Back to variants list

NAGLU

NM_000263.4:p.R533*

Associated Papers

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

Montenegro YHA et al.

Genetics and Molecular Biology, 2024

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Almenabawy N et al.

American Journal of Medical Genetics. Part A, 2023

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

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.

Mangas M et al.

Clinical Genetics, 2008

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."