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Items: 2

1.
Suzanne E. de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uirá S. Melo, Julio C. Corral-Serrano, Timo Mulders, Michalis Georgiou, Carlo Rivolta, Nikolas Pontikos, Gavin Arno, Lisa Roberts, Jacquie Greenberg, Silvia Albert, Christian Gilissen, Marco Aben, George Rebello, Simon Mead, F. Lucy Raymond, Jordi Corominas, Claire E.L. Smith, Hannie Kremer, Susan Downes, Graeme C. Black, Andrew R. Webster, Chris F. Inglehearn, L. Ingeborgh van den Born, Robert K. Koenekoop, Michel Michaelides, Raj S. Ramesar, Carel B. Hoyng, Stefan Mundlos, Musa M. Mhlanga, Frans P.M. Cremers, Michael E. Cheetham, Susanne Roosing, Alison J. Hardcastle
Am J Hum Genet. 2020 Nov 5; 107(5): 802–814. Published online 2020 Oct 5. doi: 10.1016/j.ajhg.2020.09.002
PMCID:
PMC7675008
2.
Noriyasu Ohshima, Takahiro Kudo, Yosuke Yamashita, Stefania Mariggiò, Mari Araki, Ayako Honda, Tomomi Nagano, Chiaki Isaji, Norihisa Kato, Daniela Corda, Takashi Izumi, Noriyuki Yanaka
J Biol Chem. 2015 Feb 13; 290(7): 4260–4271. Published online 2014 Dec 20. doi: 10.1074/jbc.M114.614537
PMCID:
PMC4326834

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