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diseases alpers
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
POLG
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
DNA-directed DNA-polymerase, family A, mitochondria
DNA-directed DNA polymerase, family A, conserved site
DNA-directed DNA polymerase, family A, palm domain
nucleoid
GCM_PPP1CC
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Curated Studies
Most Correlated Studies
Peritoneal biopsies of patients with encapsulating peritoneal sclerosis or peritoneal dialysis
RAW264.7 macrophages overexpressing Tbc1d23 and/or stimulated with LPS
C.elegans gene expression in response to 4 and 24hr treatment with cadmium
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Literature
Most Relevant Literature
Gastrointestinal neuromuscular pathology in alpers disease.
Juvenile Alpers disease].
Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.
Comment to the paper: palliative functional hemispherectomy for treatment of refractory status epile…
Palliative functional hemispherectomy for treatment of refractory status epilepticus associated with…
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Most Relevant Clinical Trials
EPI-743 for Mitochondrial Respiratory Chain Diseases
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Partici…
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-…
A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial…
The Effect of Accompanying Temporomandibular Joint Dysfunction in Patients With Chronic Migraine
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