Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
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| Description | scientific article published on 26 November 2019 |
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author: Małgorzata Rydzanicz Magdalena Kaliszewska Katarzyna Tonska Andrzej Dubiel Michal R Szymanski Rafał Płoski Szymon Ziętkiewicz |
| Publication date | November 26, 2019 |
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