Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.E153Q
Back to variants list

GNPTG

NM_032520.5:p.E153Q

Associated Papers

Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.

Doğan M et al.

Molecular Biology Reports, 2021

Multiple Domains of GlcNAc-1-phosphotransferase Mediate Recognition of Lysosomal Enzymes.

van Meel E et al.

The Journal of Biological Chemistry, 2016

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."