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1 Ergebnisse
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Novel homozygous variants in PRORP expand the genotypic spe..:
Smith, Thomas
;
Rea, Alessandro
;
Thomas, Huw
...
qt08b331z6. , 2023
Link:
https://escholarship.org/uc/item/08b331z6
RT Journal T1
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt08b331z6&Exemplar=1&LAN=DE A1 Smith, Thomas A1 Rea, Alessandro A1 Thomas, Huw A1 Thompson, Kyle A1 Oláhová, Monika A1 Maroofian, Reza A1 Zamani, Mina A1 He, Langping A1 Sadeghian, Saeid A1 Galehdari, Hamid A1 Lotan, Nava A1 Gilboa, Tal A1 McCorvie, Thomas A1 Yue, Wyatt A1 Houlden, Henry A1 Taylor, Robert A1 Newman, William A1 OKeefe, Raymond A1 Herman, Kristin PB eScholarship, University of California YR 2023 K1 Female K1 Humans K1 Genotype K1 Hearing Loss K1 Sensorineural K1 Homozygote K1 Mitochondrial Diseases K1 RNA K1 Transfer K1 Ribonuclease P JF qt08b331z6 LK http://dx.doi.org/https://escholarship.org/uc/item/08b331z6 DO https://escholarship.org/uc/item/08b331z6 SF ELIB - SuUB Bremen
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