Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.R674H
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NAGLU

NM_000263.4:p.R674H

Associated Papers

Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.

van Paassen BW et al.

Neurology. Genetics, 2025

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

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

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

Valstar MJ et al.

Journal of Inherited Metabolic Disease, 2010

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

Yogalingam G et al.

Human Mutation, 2001

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Beesley CE et al.

Journal of Medical Genetics, 1998

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

Zhao HG et al.

American Journal of Human Genetics, 1998

NAGLU mutations underlying Sanfilippo syndrome type B.

Schmidtchen A et al.

American Journal of Human Genetics, 1998

The molecular basis of Sanfilippo syndrome type B.

Zhao HG et al.

Proceedings of the National Academy of Sciences of the United States of America, 1996

Genetic diagnosis of childhood sensorineural hearing loss.

Reda Del Barrio S et al.

Acta Otorrinolaringologica Espanola, 0

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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."