Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.P1001L
Back to variants list

ATP7A

NM_000052.7:p.P1001L

Associated Papers

Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease.

Canalichio KL et al.

Urology, 2020

Copper and the brain noradrenergic system.

Lutsenko S et al.

Journal of Biological Inorganic Chemistry : Jbic : a Publication of the Society of Biological Inorganic Chemistry, 2019

Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.

Donsante A et al.

American Journal of Medical Genetics. Part A, 2010

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."