Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.F217S
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CP

NM_000096.4:p.F217S

Associated Papers

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

Ziliotto N et al.

Ebiomedicine, 2025

Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.

Colucci F et al.

Movement Disorders Clinical Practice, 2024

Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia.

Pelucchi S et al.

Parkinsonism & Related Disorders, 2018

Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series.

Vroegindeweij LH et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2015

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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."