rs113994097
|
|
Alpers Syndrome (disorder)
|
G |
0.830 |
GeneticVariation
|
CLINVAR |
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
|
16638794 |
2006 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
G |
0.830 |
GeneticVariation
|
CLINVAR |
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
|
17088268 |
2006 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
|
0.830 |
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 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
G |
0.830 |
GeneticVariation
|
CLINVAR |
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
|
22931735 |
2012 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
G |
0.830 |
CausalMutation
|
CLINVAR |
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
|
17088268 |
2006 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
|
15689359 |
2005 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
G |
0.830 |
GeneticVariation
|
CLINVAR |
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
|
15477547 |
2004 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
G |
0.830 |
GeneticVariation
|
CLINVAR |
Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.
|
20153822 |
2010 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
G |
0.830 |
CausalMutation
|
CLINVAR |
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
|
21880868 |
2011 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
|
18828154 |
2009 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Mitochondrial DNA depletion syndrome causing liver failure.
|
25129007 |
2014 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
POLG mutations and Alpers syndrome.
|
15929042 |
2005 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
|
15122711 |
2004 |
rs113994097
|
|
Alpers Syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |