rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
|
27742667 |
2016 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
|
27742667 |
2016 |
rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
|
25060828 |
2014 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
|
25060828 |
2014 |
rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
|
22638565 |
2012 |
rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
|
22748208 |
2012 |
rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
|
22693283 |
2012 |
rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
|
22606975 |
2012 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
|
22693283 |
2012 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
|
22638565 |
2012 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
|
22606975 |
2012 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
|
22748208 |
2012 |
rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.
|
21710140 |
2011 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.
|
21710140 |
2011 |
rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Neuronal ceroid lipofuscinoses.
|
19084560 |
2009 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Neuronal ceroid lipofuscinoses.
|
19084560 |
2009 |
rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
|
17455289 |
2007 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
|
17455289 |
2007 |
rs1554397774
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.
|
15778103 |
2005 |
rs201296399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.
|
15778103 |
2005 |