Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L259delFs
Back to variants list

ATP7B

NM_000053.4:p.L259delFs

Associated Papers

Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

Liu G et al.

Bmc Medical Genetics, 2018

29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx

[A novel mutation in ATP7B gene associated with severe neurological impairment in Wilson's disease].

Elleuch N et al.

Revue Neurologique, 2010

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."