Variant: rs113994097 

    present in Gene: POLG
    present in Chromosome: 15
    Position on Chromosome: 89323426
    Alleles of this Variant: C/G

rs113994097 in POLG gene and Alpers Syndrome (disorder) PMID 17088268 2006 Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 16638794 2006 The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

PMID 15477547 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

PMID 18828154 2009 Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

PMID 15689359 2005 Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

PMID 20153822 2010 Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.

PMID 25129007 2014 Mitochondrial DNA depletion syndrome causing liver failure.

PMID 15929042 2005 POLG mutations and Alpers syndrome.

rs113994097 in POLG gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs113994097 in POLG gene and Seizures PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 26755490 2016 Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.

PMID 17426723 2007 Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

PMID 18294203 2008 Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

PMID 29474836 2019 Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.

PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.

rs113994097 in POLG gene and Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID 16919951 2006 SANDO: two novel mutations in POLG1 gene.

PMID 16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PMID 12565911 2003 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

PMID 16080118 2005 Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 26942291 2016 PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

PMID 15477547 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

PMID 14745080 2004 POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.