Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1266E
Back to variants list

ATP7B

NM_000053.4:p.G1266E

Associated Papers

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.

Calvo JS et al.

Human Mutation, 2025

Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.

Zhang T et al.

Bmc Pediatrics, 2024

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Mutational analysis of ATP7B in north Chinese patients with Wilson disease.

Li K et al.

Journal of Human Genetics, 2013

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."