rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
0.800 |
GeneticVariation |
UNIPROT |
PRICKLE2 Mutations Might Not Be Involved in Epilepsy.
|
26942291 |
2016 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
0.800 |
GeneticVariation |
UNIPROT |
SANDO: two novel mutations in POLG1 gene.
|
16919951 |
2006 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
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 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
|
16080118 |
2005 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
|
15917273 |
2005 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
0.800 |
GeneticVariation |
UNIPROT |
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
|
15824347 |
2005 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
0.800 |
GeneticVariation |
UNIPROT |
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
|
15477547 |
2004 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
0.800 |
GeneticVariation |
UNIPROT |
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
|
14745080 |
2004 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
|
12565911 |
2003 |
rs113994097
|
Entrez Id: |
5428 |
Gene Symbol: |
POLG |
POLG
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|