Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.S505insFs
Back to variants list

CP

NM_000096.4:p.S505insFs

Associated Papers

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.

Djebrani-Oussedik N et al.

Jhep Reports : Innovation in Hepatology, 2025

40980162 (PubMed )
Supplement: mmc1.pdf

High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.

Zappu A et al.

Journal of Pediatric Gastroenterology and Nutrition, 2008

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

Loudianos G et al.

Human Mutation, 1999

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."