Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.I830T

Back to variants list

ATP7B

NM_000053.4:p.I830T

hg38:chr13:51950358 A>G

Associated Papers

Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory.

Poon KS et al.

Journal of Clinical Pathology, 2020

31796634 (PubMed )

Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.

Poon KS et al.

Clinical Biochemistry, 2016

26483271 (PubMed )

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."