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1 Ergebnisse
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Homozygous variant in OTX2 and possible genetic modifiers i..:
Catania, Alessia
;
Legati, Andrea
;
Peverelli, Lorenzo
...
American Journal of Medical Genetics Part A. 179 (2019) 5 - p. 827-831 , 2019
Link:
https://doi.org/10.1002/ajmg.a.61092
RT Journal T1 <Title>Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61092&Exemplar=1&LAN=DE A1 Catania, Alessia A1 Legati, Andrea A1 Peverelli, Lorenzo A1 Nanetti, Lorenzo A1 Marchet, Silvia A1 Zanetti, Nadia A1 Lamperti, Costanza A1 Ghezzi, Daniele PB Wiley YR 2019 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 179 IS 5 SP 827 OP 831 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61092 DO https://doi.org/10.1002/ajmg.a.61092 SF ELIB - SuUB Bremen
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