title: Rare variant of unknown significance in POLG1 and diagnostic dilemma.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 103856, Durham, NC, 27710, USA, drpankajprasun@gmail.com.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Prasun
mesh_terms: D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics*; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics; D012189:Retrospective Studies
chemical_list: D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human