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De novo missense variants in RRAGC lead to a fatal mTORopat..:
Reijnders, MRF
;
Seibt, A
;
Brugger, M
...
https://eprints.whiterose.ac.uk/198140/8/De%20novo%20missense%20variants%20in%20RRAGC%20lead%20to%20a%20fatal.pdf. , 2023
Link:
https://eprints.whiterose.ac.uk/198140/
RT Journal T1 <Title>De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftleedsuniv:oai:eprints.whiterose.ac.uk:198140&Exemplar=1&LAN=DE A1 Reijnders, MRF A1 Seibt, A A1 Brugger, M A1 Lamers, IJC A1 Ott, T A1 Klaas, O A1 Horvath, J A1 Rose, AMS A1 Craghill, IM A1 Brunet, T A1 Graf, E A1 Mayerhanser, K A1 Hellebrekers, D A1 Pauck, D A1 Neuen-Jacob, E A1 Rodenburg, RJT A1 Wieczorek, D A1 Klee, D A1 Mayatepek, E A1 Driessen, G A1 Bindermann, R A1 Averdunk, L A1 Lohmeier, K A1 Sinnema, M A1 Stegmann, APA A1 Roepman, R A1 Poulter, JA A1 Distelmaier, F PB Elsevier YR 2023 JF https://eprints.whiterose.ac.uk/198140/8/De%20novo%20missense%20variants%20in%20RRAGC%20lead%20to%20a%20fatal.pdf LK http://dx.doi.org/https://eprints.whiterose.ac.uk/198140/ DO https://eprints.whiterose.ac.uk/198140/ SF ELIB - SuUB Bremen
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