Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.E120*
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NAGLU

NM_000263.4:p.E120*

Associated Papers

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2026

41593770 (PubMed )
Supplement: 13023_2026_4195_MOESM3_ESM.xlsx › Enzyme_and_molecular_data

Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.

Lipiński P et al.

Biomolecules, 2025

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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."