Associated Papers
Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.
Ziliotto N et al.
Ebiomedicine, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
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
Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus.
Shang HF et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
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