|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
|
26443629 |
2016 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
|
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, 8
|
|
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
|
19807737 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
|
19431184 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
|
16570191 |
2006 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
|
15024724 |
2004 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
|
27844444 |
2017 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
|
27844444 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
|
27844444 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
|
26657971 |
2015 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
|
26657971 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
|
26657971 |
2015 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |