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1 Ergebnisse
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Biallelic Variants in PYROXD2 Cause a Severe Infantile Meta..:
Van Bergen, Nicole J
;
Hock, Daniella H
;
Spencer, Lucy
...
https://vuir.vu.edu.au/46420/. , 2022
Link:
https://vuir.vu.edu.au/46420/
RT Journal T1
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function
UL https://suche.suub.uni-bremen.de/peid=base-ftuvictoria:oai:eprints.vu.edu.au:46420&Exemplar=1&LAN=DE A1 Van Bergen, Nicole J A1 Hock, Daniella H A1 Spencer, Lucy A1 Massey, Massey A1 Stait, Tegan A1 Stark, Zornitza A1 Lunke, Sebastian A1 Roesley, Ain A1 Peters, Heidi A1 Lee, Joy Yaplito A1 Fevre, Anna Le A1 Heath, Oliver A1 Mignone, Cristina A1 Yang, Joseph Yuan-Mou A1 Ryan, Monique M A1 D'arcy, Colleen A1 Nash, Margot A1 Smith, Sile A1 Caruana, Nikeisha A1 Thorburn, David R A1 Stroud, David A A1 White, Susan M A1 Christodoulou, John A1 Brown, Natasha J PB MDPI YR 2022 K1 3102 Bioinformatics and computational biology K1 Institute for Health and Sport K1 mitochondria K1 reactive oxygen species K1 genome sequencing K1 mitoribosome K1 oxidative phosphorylation K1 PYROXD2 K1 ultrarapid genomics JF https://vuir.vu.edu.au/46420/ LK http://dx.doi.org/https://vuir.vu.edu.au/46420/ DO https://vuir.vu.edu.au/46420/ SF ELIB - SuUB Bremen
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