rs139590686
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
|
15122711 |
2004 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
|
15689359 |
2005 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
POLG mutations and Alpers syndrome.
|
15929042 |
2005 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of Alpers syndrome.
|
16545482 |
2006 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
|
16639411 |
2006 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
|
16639411 |
2006 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
|
18487244 |
2008 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
|
18546365 |
2008 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
|
18828154 |
2009 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
|
18828154 |
2009 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
|
20843780 |
2011 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Clinical reasoning: a 10-month-old boy with myoclonic status epilepticus.
|
21282586 |
2011 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
POLG1 manifestations in childhood.
|
21357833 |
2011 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
|
21880868 |
2011 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations.
|
21956653 |
2012 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
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 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Surgical management of the burn wound and use of skin substitutes: an expert panel white paper.
|
23446645 |
2013 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
|
23921535 |
2014 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A national perspective on prenatal testing for mitochondrial disease.
|
24642831 |
2014 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mitochondrial DNA depletion syndrome causing liver failure.
|
25129007 |
2014 |
rs139590686
|
|
Alpers Syndrome (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
De novo mtDNA point mutations are common and have a low recurrence risk.
|
27450679 |
2017 |