|
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 |
|
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 |
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
|
23448099 |
2013 |
|
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 |
POLG mutation presenting with late-onset jerky torticollis.
|
23212759 |
2013 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
|
21647632 |
2012 |
|
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 |
Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.
|
19538466 |
2011 |
|
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 |
Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
|
21515089 |
2011 |
|
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 |
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
|
15824347 |
2005 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].
|
20576279 |
2010 |
|
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 |
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
|
19501198 |
2009 |
|
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 |
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
|
11431686 |
2001 |
|
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 |
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
|
22006280 |
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 |
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
|
20691285 |
2011 |
|
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 |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
|
18546343 |
2008 |
|
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |