Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q286*
Back to variants list

ATP7B

NM_000053.4:p.Q286*

Associated Papers

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H et al.

Npj Genomic Medicine, 2020

33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Davies LP et al.

Genetic Testing, 2008

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."