Varaico: Literature-Extracted Genetic Variants

Gene:ZDHHC2
Variant:p.V53Splc
Back to variants list

ZDHHC2

NM_016353.5:p.V53Splc

Associated Papers

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Dimitriou E et al.

Molecular Genetics and Metabolism Reports, 2020

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

Glucocerebrosidase mutations in Thai patients with Parkinson's disease.

Pulkes T et al.

Parkinsonism & Related Disorders, 2014

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Sidransky E et al.

The New England Journal of Medicine, 2009

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."