rs386833695
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the Batten disease gene, CLN3.
|
9311735 |
1997 |
rs386833695
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
rs386833695
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.
|
9490299 |
1998 |
rs386833695
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
|
22261744 |
2012 |
rs386833695
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Batten disease: evaluation of CLN3 mutations on protein localization and function.
|
10749980 |
2000 |
rs386833695
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
rs386833695
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
rs386833695
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Spectrum of mutations in the Batten disease gene, CLN3.
|
9311735 |
1997 |
rs386833695
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
rs386833695
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
|
21499717 |
2011 |
rs386833695
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
|
20187884 |
2010 |
rs386833695
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
|
19132115 |
2009 |
rs386833695
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Spectrum of mutations in the Batten disease gene, CLN3.
|
9311735 |
1997 |
rs386833695
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Batten disease: evaluation of CLN3 mutations on protein localization and function.
|
10749980 |
2000 |
rs386833695
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A yeast model for the study of Batten disease.
|
9618513 |
1998 |
rs386833695
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
|
19132115 |
2009 |