Article

Model systems informing mechanisms and drug discovery: a systematic review of POLG-related disease models

2023-01-20

Abstract excerpt

<h4>Introduction: </h4> Pathogenic variants in the gene encoding the catalytic subunit of DNA polymerase gamma ( POLG ), comprise an important single-gene cause of inherited mitochondrial disorders. Clinical manifestations are now recognised as an array of overlapping clinical features rather than discrete syndromes as originally conceptualised. Animal and cellular models have been used to address numerous scient...

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Literature Corpus work: 4485be1b-7545-541c-af54-135a149402a4
DOI: 10.12688/wellcomeopenres.18637.1

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