Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.R305delFs
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NEU1

NM_000434.4:p.R305delFs

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
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