rs148412181
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.
|
28878621 |
2017 |
rs137852695
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs137852696
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
rs148412181
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
rs148412181
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
rs137852695
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
rs137852695
|
|
|
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 |
rs137852696
|
|
|
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 |
rs137852697
|
|
|
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 |
rs137852698
|
|
|
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 |
rs137852701
|
|
|
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 |
rs137852702
|
|
|
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 |
rs148412181
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.
|
22387303 |
2012 |
rs148412181
|
|
|
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 |
rs386833626
|
|
|
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 |
rs386833627
|
|
|
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 |
rs386833631
|
|
|
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 |
rs386833631
|
|
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 |
rs386833642
|
|
|
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 |
rs386833647
|
|
|
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 |
rs386833650
|
|
|
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 |
rs386833650
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
rs386833657
|
|
|
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 |
rs386833658
|
|
|
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 |
rs386833661
|
|
|
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 |