CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
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 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
|
19038966 |
2009 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
|
19038966 |
2009 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.
|
19038967 |
2009 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner.
|
19246452 |
2009 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|
10330339 |
1999 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|
10330339 |
1999 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
|
26075876 |
2015 |
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|
10330339 |
1999 |
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
|
9788728 |
1998 |