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1 Ergebnisse
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Recurrent, founder and hypomorphic variants contribute to s..:
Serpieri Valentina
;
Mortarini Giulia
;
Loucks Hailey
...
doi:10.1136/jmg-2022-108725. , 2022
Link:
https://zenodo.org/record/6188091
RT Journal T1
Recurrent, founder and hypomorphic variants contribute to shaping the genetic landscape of Joubert syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftzenodo:oai:zenodo.org:6188091&Exemplar=1&LAN=DE A1 Serpieri Valentina A1 Mortarini Giulia A1 Loucks Hailey A1 Biagini Tommaso A1 Micalizzi Alessia A1 Palmieri Ilaria A1 Dempsey Jennifer C A1 D'Abrusco Fulvio A1 Mazzotta Concetta A1 Battini Roberta A1 Bertini Enrico A1 Boltshauser Eugen A1 Borgatti Renato A1 Brockmann Knut A1 D'Arrigo Stefano A1 Nardocci Nardo A1 Fischetto Rita A1 Agolini Emanuele A1 Novelli Antonio A1 Romano Alfonso A1 Romaniello Romina A1 Stanzial Franco A1 Signorini Sabrina A1 Strisciuglio Pietro A1 Gana Simone A1 Mazza Tommaso A1 Doherty Dan A1 Valente Enza Maria YR 2022 K1 patients K1 allele frequency K1 recurrent variants JF doi:10.1136/jmg-2022-108725 LK http://dx.doi.org/https://zenodo.org/record/6188091 DO https://zenodo.org/record/6188091 SF ELIB - SuUB Bremen
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