rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
|
29184165 |
2017 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.
|
28293679 |
2017 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.
|
28293679 |
2017 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
|
29184165 |
2017 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.
|
27091223 |
2016 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.
|
27091223 |
2016 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
|
26400718 |
2015 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
|
25996915 |
2015 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
|
25656163 |
2015 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
|
26297560 |
2015 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
|
26410222 |
2015 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
|
25895915 |
2015 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.
|
25359261 |
2015 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
|
25895915 |
2015 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
|
26410222 |
2015 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
|
25656163 |
2015 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.
|
25359261 |
2015 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
|
26400718 |
2015 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
|
26297560 |
2015 |
rs1555859593
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
|
25996915 |
2015 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Cognitive impairment in rapid-onset dystonia-parkinsonism.
|
24436111 |
2014 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
|
24468074 |
2014 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Distinct neurological disorders with ATP1A3 mutations.
|
24739246 |
2014 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
|
24123283 |
2014 |
rs1555859157
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.
|
24996492 |
2014 |