|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
|
15917273 |
2005 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
|
15122711 |
2004 |
|
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 |
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.
|
16368709 |
2006 |
|
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 |
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
|
20691285 |
2011 |
|
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 |
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
|
23430834 |
2011 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The spectrum of epilepsy caused by POLG mutations.
|
26104464 |
2016 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
|
15824347 |
2005 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
|
27987238 |
2017 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
|
24725338 |
2014 |
|
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 |
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
|
26735972 |
2016 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
|
21235791 |
2011 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
An informatics approach to analyzing the incidentalome.
|
22995991 |
2013 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
|
19813183 |
2010 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
|
19501198 |
2009 |
|
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 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
POLG1 variations presenting as multiple sclerosis.
|
20837861 |
2010 |
|
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 |
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).
|
21686371 |
2009 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
|
20138553 |
2010 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
|
16024923 |
2005 |