Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K1248fs
Back to variants list

ATP7B

NM_000053.4:p.K1248fs

Associated Papers

The mutation spectrum and ethnic distribution of Wilson disease, a review.

Beyzaei Z et al.

Molecular Genetics and Metabolism Reports, 2024

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.

Yi F et al.

Jimd Reports, 2020

Eye movement abnormalities are associated with brainstem atrophy in Wilson disease.

Hanuška J et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

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."