rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
|
21880868 |
2011 |
rs113994096
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
|
21880868 |
2011 |
rs113994098
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
|
21880868 |
2011 |
rs121918054
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
|
21880868 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
|
21993618 |
2012 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
|
22006280 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
|
22189570 |
2012 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
|
22342071 |
2012 |
rs113994094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
|
22931735 |
2012 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
An informatics approach to analyzing the incidentalome.
|
22995991 |
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 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
POLG mutation presenting with late-onset jerky torticollis.
|
23212759 |
2013 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
|
23430834 |
2011 |
rs778573169
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
|
23446635 |
2013 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
|
23448099 |
2013 |
rs113994096
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
|
23448099 |
2013 |
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 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Propofol-related infusion syndrome heralding a mitochondrial disease: case report.
|
23873972 |
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 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.
|
24272679 |
2014 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
|
24725338 |
2014 |