rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
UNIPROT
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
25756792
2015
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
UNIPROT
These results are specific to the KCNC3(R420H ) allele and provide new insight into the molecular basis of disease manifestation in SCA13 .
25152487
2014
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
BEFREE
These results are specific to the KCNC3(R420H ) allele and provide new insight into the molecular basis of disease manifestation in SCA13 .
25152487
2014
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
BEFREE
The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring.
23912307
2013
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
UNIPROT
Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface.
23734863
2013
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
UNIPROT
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
22289912
2012
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
UNIPROT
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
21479265
2011
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
UNIPROT
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
19953606
2010
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
0.820
GeneticVariation
UNIPROT
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
16501573
2006
rs104894699
×
Entrez Id:
3748
Gene Symbol:
KCNC3
KCNC3
Spinocerebellar ataxia 13
T
0.820
CausalMutation
CLINVAR