|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
|
28806457 |
2017 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
|
29264397 |
2017 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
|
29264397 |
2017 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
|
28252636 |
2017 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
|
26648591 |
2016 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
|
26477325 |
2015 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
|
26477325 |
2015 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
|
26503721 |
2015 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo KCNB1 mutations in epileptic encephalopathy.
|
25164438 |
2014 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo KCNB1 mutations in epileptic encephalopathy.
|
25164438 |
2014 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
De novo KCNB1 mutations in epileptic encephalopathy.
|
25164438 |
2014 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
De novo KCNB1 mutations in epileptic encephalopathy.
|
25164438 |
2014 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|