Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N1270T
Back to variants list

ATP7B

NM_000053.4:p.N1270T

Associated Papers

ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

Ljubić H et al.

Genetic Testing and Molecular Biomarkers, 2016

Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.

Németh D et al.

Gastroenterology Research and Practice, 2016

In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.

Squitti R et al.

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014

Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.

Usta J et al.

Jimd Reports, 2012

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."