Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.C338Y
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CP

NM_000096.4:p.C338Y

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: mmc3.xlsx › 67_gnomAD

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.

Benzoni C et al.

Journal of Neurology, 2023

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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."