Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.F229del1
Back to variants list

CTSD

NM_001909.5:p.F229del1

Associated Papers

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Chartier S et al.

Birth Defects Research, 2021

Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.

De Pasquale V et al.

Cells, 2020

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Varvagiannis K et al.

Neuropediatrics, 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."