rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
G
0.800
CausalMutation
CLINVAR
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
23539563
2013
rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
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
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.800
GeneticVariation
UNIPROT
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
19201763
2009
rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.800
GeneticVariation
UNIPROT
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
19941651
2009
rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
G
0.800
CausalMutation
CLINVAR
Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.
11520175
2001
rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.800
GeneticVariation
UNIPROT
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.
11506414
2001
rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.800
GeneticVariation
UNIPROT
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
9425237
1998
rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
G
0.800
CausalMutation
CLINVAR
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
9425237
1998
rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.800
GeneticVariation
UNIPROT
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
9664077
1998
rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
G
0.800
CausalMutation
CLINVAR
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
9664077
1998
rs137852696
×
Entrez Id:
5538
Gene Symbol:
PPT1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.800
GeneticVariation
UNIPROT
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
7637805
1995