Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.L768_D769insFs
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CP

NM_000096.4:p.L768_D769insFs

Associated Papers

Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.

Garbuz M et al.

Biomedicines, 2024

Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.

Lee CC et al.

Journal of Human Genetics, 2000

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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."