Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.M557R
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CP

NM_000096.4:p.M557R

Associated Papers

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

Ziliotto N et al.

Ebiomedicine, 2025

Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene.

Yamamura A et al.

Internal Medicine (tokyo, Japan), 2018

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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."