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A novel mutation of Twinkle in Perrault syndrome: A not rar..:
Gotta, Fabio
;
Lamp, Merit
;
Geroldi, Alessandro
...
Annals of Human Genetics. 84 (2020) 5 - p. 417-422 , 2020
Link:
https://doi.org/10.1111/ahg.12384
RT Journal T1 <Title>A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_ahg.12384&Exemplar=1&LAN=DE A1 Gotta, Fabio A1 Lamp, Merit A1 Geroldi, Alessandro A1 Trevisan, Lucia A1 Origone, Paola A1 Fugazza, Giuseppina A1 Fabbri, Sabrina A1 Nesti, Claudia A1 Rubegni, Anna A1 Morani, Federica A1 Santorelli, Filippo Maria A1 Bellone, Emilia A1 Mandich, Paola PB Wiley YR 2020 SN 0003-4800 SN 1469-1809 JF Annals of Human Genetics VO 84 IS 5 SP 417 OP 422 LK http://dx.doi.org/https://doi.org/10.1111/ahg.12384 DO https://doi.org/10.1111/ahg.12384 SF ELIB - SuUB Bremen
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