rs201477273
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.
|
19364868 |
2009 |
rs201477273
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.
|
17436221 |
2007 |
rs201477273
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
|
18546365 |
2008 |
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 |
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
|
20185557 |
2010 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Depletion of mtDNA: syndromes and genes.
|
17280874 |
2007 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Propofol-related infusion syndrome heralding a mitochondrial disease: case report.
|
23873972 |
2013 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
|
19752458 |
2009 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Universal heteroplasmy of human mitochondrial DNA.
|
23077218 |
2013 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
|
20843780 |
2011 |
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 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.
|
20803511 |
2010 |
rs1057517891
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs113994094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.
|
25585994 |
2015 |
rs113994094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
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 |
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 |
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
|
23783014 |
2013 |
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 |
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).
|
21686371 |
2009 |
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 |
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
|
14635118 |
2003 |
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 |
The spectrum of epilepsy caused by POLG mutations.
|
26104464 |
2016 |