rs113994097
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
|
29474836 |
2019 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
|
28771251 |
2018 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.
|
29588995 |
2018 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
|
27987238 |
2017 |
rs113994097
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Understanding the Epilepsy in POLG Related Disease.
|
28837072 |
2017 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The spectrum of epilepsy caused by POLG mutations.
|
26104464 |
2016 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
|
26735972 |
2016 |
rs113994097
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The spectrum of epilepsy caused by POLG mutations.
|
26104464 |
2016 |
rs113994097
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.
|
26755490 |
2016 |
rs113994094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.
|
25585994 |
2015 |
rs121918054
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
|
25356970 |
2015 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
|
24725338 |
2014 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
|
25286830 |
2014 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.
|
24272679 |
2014 |
rs121918054
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
|
24725338 |
2014 |
rs113994094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.
|
23665194 |
2013 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
|
23783014 |
2013 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
POLG mutation presenting with late-onset jerky torticollis.
|
23212759 |
2013 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
|
23448099 |
2013 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
An informatics approach to analyzing the incidentalome.
|
22995991 |
2013 |
rs113994096
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
|
23448099 |
2013 |
rs201477273
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
|
24091540 |
2013 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Propofol-related infusion syndrome heralding a mitochondrial disease: case report.
|
23873972 |
2013 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Universal heteroplasmy of human mitochondrial DNA.
|
23077218 |
2013 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.
|
23208208 |
2013 |