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Expanding the Clinical and Genetic Spectrum of RAB28 -Relat..:
Giancarlo Iarossi
;
Valerio Marino
;
Paolo Enrico Maltese
...
https://www.mdpi.com/1422-0067/22/1/381. , 2020
Link:
https://doi.org/10.3390/ijms22010381
RT Journal T1
Expanding the Clinical and Genetic Spectrum of RAB28 -Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:917d07f609194f4e9b509b45f8b87d4e&Exemplar=1&LAN=DE A1 Giancarlo Iarossi A1 Valerio Marino A1 Paolo Enrico Maltese A1 Leonardo Colombo A1 Fabiana D'Esposito A1 Elena Manara A1 Kristjana Dhuli A1 Antonio Mattia Modarelli A1 Gilda Cennamo A1 Adriano Magli A1 Daniele Dell'Orco A1 Matteo Bertelli PB MDPI AG YR 2020 K1 autosomal recessive cone-rod dystrophy K1 compound heterozygosis K1 GTPase K1 molecular dynamics K1 Biology (General) K1 QH301-705.5 K1 Chemistry K1 QD1-999 JF https://www.mdpi.com/1422-0067/22/1/381 LK http://dx.doi.org/https://doi.org/10.3390/ijms22010381 DO https://doi.org/10.3390/ijms22010381 SF ELIB - SuUB Bremen
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