Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N958fs
Back to variants list

ATP7B

NM_000053.4:p.N958fs

Associated Papers

Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.

Choi W et al.

Cells, 2024

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.

Ovchinnikova EV et al.

International Journal of Molecular Sciences, 2024

The genetics of Wilson disease.

Chang IJ et al.

Handbook of Clinical Neurology, 2017

Geographic distribution of ATP7B mutations in Wilson disease.

Gomes A et al.

Annals of Human Biology, 2016

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."