|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
|
22832778 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
|
18684116 |
2008 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
|
12376936 |
2002 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
|
12376936 |
2002 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
|
11339651 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
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
|
|
0.700 |
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 |
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 |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|
10330339 |
1999 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
|
10356316 |
1999 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
|
10356316 |
1999 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
|
9788728 |
1998 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
|
9788728 |
1998 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Seizures
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Speech Delay
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Moderate intellectual disability
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|