Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.R164Q
Back to variants list

ATP13A2

NM_022089.4:p.R164Q

Associated Papers

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

Farias FH et al.

Neurobiology of Disease, 2011

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."