Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.E59del1
Back to variants list

PPT1

NM_000310.4:p.E59del1

Associated Papers

Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene.

Ozono T et al.

Journal of the Neurological Sciences, 2018

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."