Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R725R
Back to variants list

ATP7B

NM_000053.4:p.R725R

Associated Papers

Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.

Stalke A et al.

Clinical Genetics, 2018

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

Gojová L et al.

Clinical Genetics, 2008

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

Vrabelova S et al.

Molecular Genetics and Metabolism, 0

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."