Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.Q566*
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NAGLU

NM_000263.4:p.Q566*

Associated Papers

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.

Li S et al.

Biomolecules, 2023

37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.

Matalonga L et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2015

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

Gómez-Grau M et al.

Plos One, 2015

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