Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.N483S
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CP

NM_000096.4:p.N483S

Associated Papers

Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.

Ziliotto N et al.

Ebiomedicine, 2025

40043514 (PubMed )
Supplement: mmc5.xlsx › gnomAD-ClinVar_uncertain
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