Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.C435S
Back to variants list

CLN3

NM_001042432.2:p.C435S

Associated Papers

C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.

Storch S et al.

Traffic (copenhagen, Denmark), 2007

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Mole SE et al.

Neurogenetics, 2005

The genetic spectrum of human neuronal ceroid-lipofuscinoses.

Mole SE

Brain Pathology (zurich, Switzerland), 2004

Batten disease: evaluation of CLN3 mutations on protein localization and function.

Haskell RE et al.

Human Molecular Genetics, 2000

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

Haines RL et al.

Disease Models & Mechanisms, 0

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."