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 |
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 |
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 |
rs148412181
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
|
21499717 |
2011 |
rs148412181
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
|
21499717 |
2011 |
rs148412181
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
|
19302939 |
2009 |
rs148412181
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
|
19941651 |
2009 |
rs148412181
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
rs148412181
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
|
12796825 |
2003 |
rs148412181
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.
|
11506414 |
2001 |
rs148412181
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
|
11440996 |
2001 |
rs148412181
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
|
11440996 |
2001 |
rs148412181
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Neuronal ceroid lipofuscinoses: research update.
|
11073228 |
2000 |
rs148412181
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
|
10649502 |
2000 |
rs148412181
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
|
10477428 |
1999 |
rs148412181
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
|
9425237 |
1998 |
rs148412181
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
|
9664077 |
1998 |
rs148412181
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
|
9664077 |
1998 |
rs148412181
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
|
9664077 |
1998 |
rs148412181
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
|
7637805 |
1995 |