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RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly U..:
D'Esposito, Fabiana
;
Randazzo, Viviana
;
Vega, Maria Igea
...
Medicina. 60 (2024) 2 - p. 254 , 2024
Link:
https://doi.org/10.3390/medicina60020254
RT Journal T1
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily
UL https://suche.suub.uni-bremen.de/peid=cr-10.3390_medicina60020254&Exemplar=1&LAN=DE A1 D'Esposito, Fabiana A1 Randazzo, Viviana A1 Vega, Maria Igea A1 Esposito, Gabriella A1 Maltese, Paolo Enrico A1 Torregrossa, Salvatore A1 Scibetta, Paola A1 Listì, Florinda A1 Gagliano, Caterina A1 Scalia, Lucia A1 Pioppo, Antonino A1 Marino, Antonio A1 Piergentili, Marco A1 Malvone, Emanuele A1 Fioretti, Tiziana A1 Vitrano, Angela A1 Piccione, Maria A1 Avitabile, Teresio A1 Salvatore, Francesco A1 Bertelli, Matteo A1 Costagliola, Ciro A1 Cordeiro, Maria Francesca A1 Maggio, Aurelio A1 D'Alcamo, Elena PB MDPI AG YR 2024 SN 1648-9144 JF Medicina VO 60 IS 2 SP 254 LK http://dx.doi.org/https://doi.org/10.3390/medicina60020254 DO https://doi.org/10.3390/medicina60020254 SF ELIB - SuUB Bremen
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