Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R483R
Back to variants list

ATP7B

NM_000053.4:p.R483R

Associated Papers

Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

Espinós C et al.

Jhep Reports : Innovation in Hepatology, 2020

A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.

Zhou X et al.

Frontiers in Genetics, 2020

33719328 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

Mukherjee S et al.

Parkinsonism & Related Disorders, 2014

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."