Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.R130C
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NAGLU

NM_000263.4:p.R130C

Associated Papers

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cannizzaro IR et al.

International Journal of Molecular Sciences, 2024

39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

Beesley CE et al.

Journal of Inherited Metabolic Disease, 2005

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Lee-Chen GJ et al.

Journal of Medical Genetics, 2002

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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."