Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.R305P
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NEU1

NM_000434.4:p.R305P

Associated Papers

Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.

Peng ML et al.

Genes, 2025

40004480 (PubMed )
Supplement: genes-16-00151-s001.zip › Table_S1.xlsx › clinvar_result

Two cases of type I sialidosis and a literature review.

Ding Y et al.

Orphanet Journal of Rare Diseases, 2024

Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?

Neeraja K et al.

Journal of Movement Disorders, 2021

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