PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
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POLG gene and
Abnormality of the pancreas
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
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POLG gene and
Alpers Syndrome (disorder)
PMID 20142534 2010 The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutation causes a hepatocerebral disorder identical or very similar to Alpers syndrome.
PMID 25914719 2015 Mutations S305R and P1073L in the POLG gene have been reported to be associated with early childhood Alpers syndrome.
PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
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POLG gene and
Brain atrophy
PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
rs267606959 in
POLG gene and
Decreased serum ceruloplasmin
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
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POLG gene and
Fibrosis, Liver
PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
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POLG gene and
Hypocupremia
PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
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POLG gene and
Mental deterioration
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
rs267606959 in
POLG gene and
Recurrent hypoglycemia
PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
rs267606959 in
POLG gene and
Short stature
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
rs267606959 in
POLG gene and
Status Epilepticus
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
rs267606959 in
POLG gene and
Steatohepatitis
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
PMID 20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.