Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.G892E
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CP

NM_000096.4:p.G892E

Associated Papers

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

Ziliotto N et al.

Ebiomedicine, 2025

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

Vila Cuenca M et al.

International Journal of Molecular Sciences, 2020

32235485 (PubMed )
Supplement: ijms-21-02374-s001.pdf

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."